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Flashcards in BCSC Peds Deck (569):
1

How many phases of growth of the axial length of the eye occur?

3 phases (1st -- 4mm, 0-6mos; 2nd -- 1mm, 2-6 yrs; 3rd -- 1mm, 5-13 yrs)

2

What is the normal newborn axial length of the eye?

15-17mm (vs. 23-24mm adult)

3

What is the normal newborn corneal horizontal diameter?

10mm (vs. 12mm adult)

4

What is the normal newborn corneal radius of curvature?

6.6mm-7.4mm (vs. 7.4-8.4mm adult)

5

Is mild corneal clouding normal in newborns?

Yes, and it is expected in premature infants.

6

What is the central corneal thickenss at birth?

0.96mm (--> 0.52mm at 6 mos)

7

Does the power of the pediatric lens increase or decrease over the first years of life?

decrease

8

Are infants hyperopic or myopic at birth?

Hyperopic

9

What happens to the refractive state of the eye from 0-7 yrs?

Increasing hyperopia

10

What is emmetropization?

The process of growth of the eye to resopnd to and cancel out refractive error in children in order to reach emmetropia

11

What are the average palpebral fissure measurements in infants?

18mm wide, 8mm high

12

Is normal IOP in children higher or lower than in adults?

lower, > 21 is considered abnormal in children

13

What is the difference in the insertion sites of the of the EOMs relative to the limbus in children vs. adults?

2mm closer to limbus in newborns, 1mm closer at 6 mos, similar to adults at 20 mos

14

Is vertical gaze fully functional at birth?

no, usually not fully functional until 6 mos

15

What is the direction of retinal vascularization?

Centrifugal, with the optic disc as the center; does not reach temporal ora serrata until 40 wks

16

What are the two major methods for quantifying visual acuity in preverbal infants/toddlers?

Preferential looking (PL) and Visually evoked potential (VEP)

17

What type of visual acuity test is constituted by Teller acuity cards?

Preferential looking

18

What is the average visual acuity of newborns?

20/600 by preferential looking, 20/400 by VEP

19

When is 20/20 acuity reached in children?

by 3-5 yrs of age

20

What is dysraphia?

the failure to fuse (e.g. choroidal coloboma)

21

What is hypotelorism?

Reduced distance between the medial walls of the orbits. It is associated with over 60 syndromes.

22

What is hypertelorism?

lateralization of the entire orbit (leading to an increase in both the inner and outer intercanthal distances) It occurs in over 550 disorders.

23

What is the theoretical cause of hypertelorism?

early ossification of the lesser wing of the sphenoid, which fixes the orbits in the fetal position

24

What is exorbitism?

It is defined in two different ways by different clinicians: 1) prominent eyes due to shallow orbits; 2) increased angle of divergence of orbital walls

25

What is telecanthus?

Increased distance between the inner canthi (more a measurement of the canthus itself and soft tissue than of the orbit, distinguishing it from hypertelorism)

26

What is secondary telecanthus?

Telecanthus in the presence of a normal inter-pupillary distance

27

What is dystopia canthorum?

lateral displacement of both the medial canthi and the lacrimal puncta such that the line connecting the upper and lower puncta passes over the cornea rather than sclera

28

What is cryptophthalmos?

The skin passes uninterrupted from the forehead over the eye (usually malformed) to the cheek and blends with the cornea of the eye

29

What is a common association of eyelid colobmoma?

Goldenhar syndrome

30

What is a potential complication of eyelid coloboma?

Exposure keratopathy

31

What is ankyloblepharon?

fusion of part or all of the eyelid margin

32

What is epiblepharon?

a congenital anomaly characterized by a horizontal fold of skin adjacent to either the upper or lower eyelid (usually lower). This horizontal fold of skin results in inward turning of the eyelashes against the cornea.

33

Does epiblepharon require surgery?

Usually, it resolves spontaneously in the first few years of life.

34

What is a congenital tarsal kink?

Bending backward and open of the upper eyelid. The upper tarsal plate often has a 180 degree fold

35

What is distichiasis?

Partial or complete accessory row of eyelashes growing out of (or slightly posterior to) the meibomian gland orifices

36

What is euryblepharon?

enlargement of the lateral part of the palpebral aperture with downward displacement of the temporal half of the lower eyelid. It gives the appearance of a very wide palpebral fissure or droopy lower lid

37

What is epicanthus?

a crescent-shaped fold of skin running vertically between the eyelids and overlying the inner canthus

38

How many types of epicanthus are there?

4 (tarsalis, inversus, palpebralis, supraciliaris)

39

What is the normal relative positioning of the medial and lateral canthus?

Lateral canthus 1mm higher than medial canthus

40

What 4 features comprise blepharophimosis syndrome?

1) blepharophimosis, 2) epicanthus inversus, 3) telecanthus, 4) ptosis

41

What intervention may be needed early in life for children with blepharophimosis syndrome?

Ptosis repair, possibly with frontralis suspension

42

What is the most common cause of amblyopia in patients with congenital ptosis?

Anisometropic astigmatism

43

What are aspect of ptosis evaluation?

1) presence or absence of upper eyelid fold, 2) margin-reflex distance, 3) levator function (distance lid moves from downgaze to upgaze while blocking frontalis contribution), 4) tear function, 5) corneal sensitivity, 6) photograph

44

What are surgical techniques for ptosis repair in children?

1) levator resection, 2) tucking of levator aponeurosis, 3) frontalis suspension

45

After what age can tensor fascia lata be harvested for surgical repairs such as frontalis suspension?

after 3 or 4 years of age

46

How can one test for Marcus Gunn jaw-wink in an infant?

have child suck on a bottle or pacifier

47

What are 3 ways in which maternal infections can cause ocular damage?

1) direct action, 2) teratogenic effect, 3) delayed reactivation after birth

48

What does TORCHES stand for?

TOxoplasmosis, Rubella, Cmv, Herpes, Ebv, Syphilis

49

What is the definitive host for Toxoplasma gondii?

Cats; humans can acquire the disease by ingestion of excreted oocysts from environment, undercooked meat, or contaminated drinking water

50

What are the ocular manifestations of congenital toxoplasmosis?

Retinitis, choroiditis, iritis, anterior uveitis.

51

What is the appearance of congenital toxoplasma retinitis?

Thickened, cream-colored, with overlying vitritis

52

What is the treatment of toxoplasma retinitis?

Pyrimethamine or sulfadiazine with or without steroids

53

What are the ocular manifestations of congenital rubella?

nuclear cataract (sometimes with liquefied lens cortex), glaucoma, microphthalmos, retinopathy with pigmentation

54

What ophthalmic treatment is usually required for congenital rubella?

lensectomy, treatment of inflammation with steroids, mydriatics

55

What is another term for congenital CMV infection?

cytomegalic inclusion disease

56

What are the ophthalmic manifestations of congenital CMV?

retinochoroiditis, optic nerve anomalies, microphthalmos, cataract, uveitis

57

What is the usual appearance of congenital CMV retinochoroiditis?

bilateral involvement consisting of areas of RPE atrophy and whitish opacities mixed with retinal hemorrhages

58

What are the ophthalmic manifestations in congenital HSV infection?

conjunctivitis, keratitis, retinochoroiditis, cataracts

59

What is treatment for congenital HSV infection?

systemic acyclovir

60

What are the ophthalmic manifestations of congenital syphilis?

pigmentary chorioretinitis, anterior uveitis, glaucoma, interstitial keratitis

61

What is the treatment for congenital syphilis?

Penicillin G, follow-up serologies at 2, 4, 6, and 12 mos

62

What is the primary ophthalmic manifestation of lymphocytic choriomeningitis (LCMV)?

Chorioretinal scars, similar in appearance to toxoplasmosis scars

63

What does the term ophthalmia neonatorum refer to?

It is a very broad term, referring to conjunctivitis occurring in the first month of life (due to any cause)

64

Which organism causes the most serious form of ophthalmia neonatorum?

Neiserria gonorrhoeae

65

What is the clinical presentation of neonatal gonococcal conjunctivitis?

chemosis, copious discharge, corneal ulceration starting in the first 3-4 days of life. Systemic infection can lead to sepsis, meningitis and arthritis

66

What is the treatment of gonococcal ophthalmia neonatorum?

systemic ceftriaxone, topical irrigation with saline. Topical antibiotics may be used if there is corneal involvement

67

What is the onset of neonatal chlamydial conjunctivitis?

1 week of age

68

What is the clinical presentation of chlamydial ophthalmia neonatorum?

mild swelling, hyperemia, papillary reaction (follicular reaction only after 1 month old), pseudomembrane formation, discharge

69

What is the treatment of neonatal chlamydial disease?

oral erythromycin 12.5mg/kg QID x 14 days

70

What prophylaxis can be used for gonococcal and chlamydial ophthalmia neonatorum?

erythromycin ointment/tetracycline ointment/povidone iodine drops

71

What are the most common causes of bacterial conjunctivitis in school-aged children?

S pneumoniae, Hemophilus, Moraxella

72

What is Parinaud oculoglandular syndrome (POS)?

unilateral granulomatous conjunctivitis with preauricuar and submandibular adenopathy

73

What is the most common cause of Parinaud oculoglandular syndrome?

cat-scratch disease

74

What is the treatment for Parinaud oculoglandular syndrome?

Usually supportive, as it is self-limited

75

What is treatment for trachoma in a child?

topical or systemic sulfa, erythromycin, or tetracycline

76

What is epidemic keratoconjunctivitis?

An acute follicular conjunctivitis, usually unilateral at onset with preauricular lymphadenopathy; usually occurs in epidemic outbreaks and is highly contagious

77

For how long after infection should children with EKC be kept out of school?

2 weeks

78

Is treatment indicated for purely conjunctival HSV infection?

No. Involvement of the cornea would prompt treatment, however.

79

What are the ophthalmic manifestations of primary VZV infection?

Usually mild, self-limited. Include conjunctival vesicles, ulcerations, internal ophthalmoplegia

80

What are the ophthalmic manifestations of EBV infection?

conjunctivitis with nummular keratitis

81

What is the treatment for EBV ophthalmic manifestations?

supportive, including cool compresses

82

What is the treatmnet of molluscum contagiosum lesions causing conjunctivitis?

incision and debridement of the central core from each lesion (usually requires general anesthesia for young children)

83

What is preseptal cellulitis?

an inflammatory process involving the tissues anterior to the orbital septum. It may be acompanied by eyelid edmea

84

How can preseptal cellulitis be differentiated from orbital cellulitis clinically?

No proptosis, absence of pain on eye movement indicate pre-septal

85

What are the 3 mechanisms for development of preseptal cellulitis?

1) posttraumatic, 2) secondary to severe conjunctivitis, 3) secondary to URI or sinus infection

86

Which cases of preseptal cellulitis can be treated outpatient with broad-spectrum antibiotics?

Those in children who are not systemically ill and have no signs of orbital involvement

87

Is orbital cellulitis in children under 9 years usually polymocrobial?

No, it is usually caused by a single aerobic pathogen. In children > 9 years, usually polymicrobial

88

What is the most common cause of bacterial orbital cellulitis?

Paranasal sinusitis

89

Which sinus is most commonly involved in cases of orbital cellulitis in children under 10?

ethmoid sinus

90

Emergency drainage of subperiosteal abscess is indicated for a patient of any age with what features?

1) evidence of optic nerve compromise, 2) enlargement of subperiosteal abscess or non-resolution within 48-72 hours of appropriate antibiotic administration

91

What is maxillary osteomyelitis?

infection spreading from nose into the tooth buds, presenting with unilateral erythema and edema of the lids, cheek and nose

92

What is mucormycosis?

A fungal infection of the orbit occurring most frequently in patients with ketoacidosis or severe immunosuppression

93

What is the treatment for mucormycosis?

debridement of necrotic and infective tissue and administration of amphotericin

94

What are the 3 main types of ocular allergic reactions?

1) seasonal allergic conjunctivitis, 2) vernal keratoconjunctivitis, 3) atopic keratoconjunctivitis

95

When does seasonal allergic conjunctivitis occur?

Spring and fall

96

What topical medications exist for ocular allergy?

mast-cell stabilizers (cromolyn, lodoxomide), H1-receptor blockers (naphazoline), vasoconstrictors naphazoline/pheniramine), NSAIDs (ketorolac), steroids

97

What are the two forms of VKC?

palpebral and bulbar, depending on which conjunctival surface is most affected

98

Which lid is usually affected in palpebral VKC?

upper eyelid

99

What is a Horner-Trantas dot?

A limbal nodule that is gray, jellylike with a vascular core and whitis center containing eosinophils and epithelioid cells

100

Is the lower lid usually involved in AKC?

Yes, unlike VKC

101

What is Stevens-Johnson Syndrome?

an acute inflammatory polymorphic disease affecting skin and mucous membranes.

102

What are the ocular manifestations of SJS?

mucopurulent conjunctivitis, corneal ulcers, vascularization, perforation; symblepharon

103

What is the pathogenesis of SJS?

Angiitis , leading to erythematous lesions that become edematous or bullous

104

What organism usually causes secondary infection in SJS?

Staph

105

What can be used to prevent symblepharon in a patient with SJS?

a symblepharon ring or a glass rod for symblepharon lysis

106

What are the ocular manifestations of Kawasaki disease?

anterior uveitis, possible conjunctival scarring and retinal ischemia

107

What should tearing in an infant prompt evaluation for other than lacrimal obstruction?

congenital/infantile glaucoma

108

What is atresia of the lacrimal puncta or canaliculi?

Failure to canalize of the punca or canaliculi, resulting in epiphora

109

Do supernumary puncta require treatment?

No

110

What is a congenital lacrimal fistula?

an epithelial-lined tract extending from the common canaliculus to the overlying skin surface

111

What is a dacryocele?

a lacrimal drainage blockage distal to the lacrimal sac kinks and closes off the entrance to the lacrimal sac, resulting in a closed lacrimal sac

112

How does dacryocele present?

as a bluish swelling just below and nasal to the medial canthus

113

What is a common association of dacryocele?

nasal mucocele (bulging of mucosa at the lower end of the NLD into the nasal cavity)

114

What is the incidence of NLD obstruction in infants who were born full-term?

5%

115

What is the usual cause of NLD obstruction?

a thin mucosal membrane at the lower end of the NLD

116

What is the time of onset of symptoms in NLD?

1 month of life

117

What are the 2 reasons for first performing digital massage of the lacrimal sac in congenital NLD obstruction?

1) express contents of lacrimal sac and reduce likelihood of infection, 2) potentially relieve duct obstruction by applying pressure to blocking membrane

118

What percent of patients with NLD obstruction have spontaneous resolution by 1 year of age?

70%

119

When is the appropriate time to perform NLD probing in an infant for obstruction?

Unclear. Some argue for 1 year, others argue for earlier.

120

What are reasons to perform NLD probing under genral anesthesia?

1) greater control, 2) evaluation and treatment of obstructing inferior turbinate or intranasal mucocele if present, 3) ability to employ balloon dilation or intubation if indicated

121

When is infracture of the inferior turbinate performed?

Usually only performed if there is firm resistance to the NLD probe

122

When is intbuation of the lacrimal system usually performed for NLD obstruction?

Usually after 1 or more simple probings or balloon dilations have failed

123

At what age is the adult corneal diameter reached?

2 years of age

124

What is the lower limit of corneal diameter for megalocornea?

13mm

125

What is the inheritance of megalocornea?

usually X-linked; 90% of patients with megalocornea are male

126

In which form of Ehlers-Danlos syndrome is keratoglobus known to occur?

Ehlers-Danlos Type VI

127

What are common associations of keratoconus?

Down syndrome, topic disease, chronic eye rubbing

128

What is the definition of microcornea?

Corneal diameter < 9mm in newborn, < 10mm after 2 years of age

129

What are common associations of microcornea?

oculodentodigital dysplasia syndrome, cataracts, colobomas, high myopia, PFV

130

What is posterior embryotoxon?

A prominent Schwalbe line due to central thickening and displacement of Schwalbe line

131

What syndromes are commonly associated with posterior embryotoxon?

1) Axenfeld-Rieger syndrome, 2) Alagille syndrome, 3) velocardiofacial syndrome

132

What is Schwalbe line?

The posterior termination of Descemet membrane

133

What is Axenfeld-Rieger syndrome?

A spectrum of developmental disorders characterized by anteriorly displaced Schwalbe line, attached iris strands, iris hypoplasia, anterior chamber dysgenesis, and glaucoma

134

What are common iris defects seen in Axenfeld-Reiger syndrome?

smooth cryptless iris surface, high iris insertion, iris transillumination

135

What is the mnemonic STUMPED?

It refers to the DDx for congenital corneal opacities: Sclerocornea, Tears in descemet membrane, Ulcers, Metabolic, Peters anomaly, Edema (CHED, PPMD, glaucoma), Dermoid

136

What are the primary congenital central corneal opacities?

CHED, CHSD, Dermoid

137

What is posterior corneal depression?

Increased convexity of the posterior corneal surface as seen on slit-lamp. Can be initially noticed as an abnormal red reflex on retinoscopy or ophthalmoscopy

138

What is Peters anomaly?

A posterior corneal defect with overlying stromal opacity, often accompanied by adherent iris strands (it is usually not subtle)

139

Is bilateral or unilateral Peters anomaly more likely to be associated with a syndrome?

Bilateral. Warrants complete genetic and systemic workup when bilateral.

140

What is sclerocornea?

a congenital disorder in which the cornea is opaque and resembles the sclera, making the limbus indistinct.

141

How can sclerocornea be differentiated from Peters anomaly?

Peters anomaly is usually more opaque in the central cornea, while Sclerocornea is usually less opaque in the central cornea

142

What is Congenital Hereditary Endothelial Dystrophy (CHED)?

an uncommon corneal dystrophy characterized by diffusely and uniformly edematous cornea as a result of a defect in the endothelium and Descemet membrane; this is accompanied by increased corneal thickness

143

What is a corneal dermoid?

a choristoma composed of fibrofatty tissue covered by keratinized epithelium

144

Where are most dermoids found?

the inferotemporal limbus

145

What is Congenital Hereditary Stromal Dystrophy (CHSD)?

A very rare opacification of the cornea with flaky or feathery clouding of the stroma, with a normal-thickness cornea, covered by a smooth, normal epithelium

146

When should deprivation amblyopia be reversed to achieve excellent vision?

Before 3 months. However, corneal transplantation is often unsuccessful at this age (with increased rates of rejection compared to after 1 year)

147

Where does cystinosis have the highest incidence?

French-speaking Canada

148

What are the ocular findings of cystinosis?

Iridescent elongated corneal crystals, appearing at 1 year. They are also found in the iris.

149

What is a Kayser-Fleischer ring?

The characteristic copper-colored ring limited to Descemet membrane seen in Wilson disease (due to excess copper deposition)

150

What are the ocular manifestations of familial dysautonomia?

Impaired lacrimation and decreased corneal sensitivity, leading to exposure keratitis, corneal ulcers, and secondary opacification

151

What is dyscoria?

An abnormality of the shape of the pupil due to a congenital malformation

152

How is the term aniridia a misnomer?

In aniridia, at least a rudimentary pupil is always present

153

In addition to dyscoria, what is seen in aniridia?

foveal hypoplasia, cataracts, and corneal opacification

154

What percentage of aniridic children have affected parents?

66%

155

Sporadic aniridia is associated with what condition?

Wilms tumor (which is due to deletion of WT1 gene, and is adjacent to the PAX6 gene (involved in aniridia)

156

Sporadic aniridia and Wilms tumor can be part of what complex?

WAGR (Wilms tumor, Aniridia, Genitourinary malformations, mental Retardation)

157

What is the "typical" cause of iris coloboma?

Failure of the embryonic fissure to close in the fifth week of gestation

158

What is the appearance of a "typical" iris coloboma?

A keyhole

159

What are Lisch nodules?

Melanocytic hamartomas of the iris commonly associated with NF1

160

What is juvenile xanthogranuloma?

A cutaneous disorder that can include vascular iris lesions appearing as yellowish or reddish nodules or causing heterochromia

161

What are iris mamillations?

Diffuse, tiny pigmented nodules seen on the surface of the iris (usually the same color)

162

What type of drug can cause central pupillary cysts?

Topical cholinesterase-inhibiting drops, such as phospholine iodide

163

What are Brushfield spots?

focal areas of iris stromal hyperplasia surrounded by relative hypoplasia. They occur in 90% of patients with Down syndrome.

164

Hypopigmented heterochromia in a child should prompt workup for what?

Horner syndrome

165

What is the most common developmental abnormality of the iris?

Persistent pupillary membranes (present in 95% of newborns, resolve on their own generally)

166

What are potential causes of congenital miosis?

1) absence or malformation of the pupil dilator muscle, 2) contracture from remnants of tunica vasculosa lentis

167

What are syndromic associations of congenital miosis?

1) congenital rubella, 2) hereditary ataxia, 3) Lowe oculocerebrorenal syndrome

168

What is a potential cause of Adie pupil in children?

VZV

169

What are potential causes of Horner syndome in children?

trauma, surgery, presence of neuroblastoma affecting the sympathetic chain in the chest

170

What is corectopia?

displacement of the pupil

171

What is ectopia lentis et pupillae?

Combination of lens subluxation and corectopia. Usually bilateral. Lens and pupil usually displaced in opposite directions

172

What is ectropion uveae?

Ectropion of the posterior pigment epithelium onto the anterior surface of the iris

173

What is congenital iris ectropion syndrome?

The combination of unilateral congenital iris ectropion, glassy smooth cryptless iris surface, high iris insertion, dysgenesis of the drainage angle, and glaucoma.

174

With what syndromes is congenital iris ectropion syndrome associated?

NF, facial hemihypertrophy, Prader-Willi

175

What is the inheritance of primary congenital glaucoma (PCG)?

It is actually usually sporadic, but may be inherited in an autosomal recessive manner

176

What is the incidence of primary congenital glaucoma?

1 in 2500 to 1 in 22,000

177

In what percentage of patients is primary congenital glaucoma bilateral?

66%

178

What is the age of onset for primary congenital glaucoma?

It is diagnosed at birth only 25% of the time. It presents within the first year of life in 80% of patients.

179

Where is the site of obstruction thought to be in primary congenital glaucoma?

In the TM

180

What is the classic clinical triad of primary congenital glaucoma (PCG)?

1) epiphora, 2) photophobia, 3) blepharospasm

181

What is often the presenting sign in patients with primary congenital glaucoma?

Corneal edema in infants < 3mos, often accompanied by curved breaks in Descemet membrane (Haab striae)

182

What refractive errors are susually seen in patients with PCG?

myopia and astigmatism from eye enlargement and corneal irregularity

183

What anterior chamber finding is common in PCG?

abnormally deep anterior chamber

184

How does the appearance of a normal infant's eye on gonioscopy differ from that of an adult?

1) TM is less pigmented, 2) Schwalbe line is less distinct, 3) Uveal meshwork is translucent

185

Where is the iris insertion in PCG relative to normal?

The iris insertion is more anterior than in the normal angle

186

What is the cup to disc ratio usually seen in PCG?

> 0.3

187

Can reversal of optic nerve cupping occur after IOP lowering surgery in children?

Yes

188

What is buphthalmos?

The pseudoproptosis and "ox eye" appearance of an eye with PCG

189

What manifestation of Sturge-Weber syndrome is associated with glaucoma?

Port-wine stain (nevus flammeus) of both the upper and lower eyelids

190

Which disorders can lead to lens-associated secondary glaucomas?

Marfan, homocystinuria, Weill-Marchesani, microspherophakia

191

When does aphakic glaucoma usually develop in children?

Years after lens removal in children

192

With regard to treatment, what are the two forms of glaucoma considered in children?

1) PCG, 2) everything else

193

What is the treatment of choice for PCG?

Angle surgery: goniotomy or trabeculotomy (2nd line: trabeculectomy; 3rd line: cycloablation

194

What is involved in goniotomy?

an incision is made under direct gonioscopic visualization across the TM

195

What is involved in a trabeculotomy?

Schlemm canal is identified, cannulated, and connected with the anterior chamber through incision of the trabecular meshwork from outside the anterior chamber

196

What percent of infants with PCT have successfully controlled IOP after 1 or 2 angle surgeries?

80%

197

What is cyclocryotherapy?

A form of cycloablation involving freezing the ciliary processes through the sclera

198

What is Transscleral laser cycloablation?

usage of the Nd:YAG or diode laser to ablate the ciliary processes

199

What is endoscopic cyclophotocoagulation?

Use of a microendoscope to apply laser energy to the ciliary processes under direct visualization

200

What is the treatment modality of choice for infants with glaucoma that is not PCG?

medical therapy

201

Which drug classes for IOP reduction are generally not used in children?

adrenergic agents and miotics

202

What percent of children presenting with PCG at birth become legally blind?

50% (visual prognosis is better in patients presenting from 3-12 mos)

203

What percent of children presenting with PCG at 3-12 mos can have their IOP controlled with angle surgery?

80-90%

204

What is the incidence of lens abnormalities in infants?

6/10,000

205

What are the inheritance patterns of hereditary cataracts?

Usually autosomal dominant. Occasionally X-linked and autosomal recessive.

206

Are hereditary cataracts usually unilateral or bilateral?

Always bilateral, but can be asymmetric

207

What is the appearance of an anterior polar cataract?

3mm or smaller in diameter, appearaing as a small white dot in the center of the anterior lens capsule

208

Are infantile eyes with nuclear cataracts usually larger or smaller than normal?

Smaller (with increased risk of developing glaucoma later in childhood)

209

What is a lamellar cataract?

A discrete, round (lenticular) cataract affecting 1 or more of the "rings" in the developing lens cortex. They are usually larger than nuclear cataracts (5mm or more in diameter)

210

By what age is the fixation reflex established?

2-3 months

211

What is posterior lenticonus?

A thinning of the central posterior capsule, initially creating an "oil droplet" appearance on red reflex examination

212

How long does opacification of a posterior lenticonus outpouching take?

can take years

213

In which phakomatosis are PSC cataracts seen?

NF2

214

What is the clinical appearance of Persistent Fetal Vasculature (PFV)?

a retrolental membrane attached to the posterior lens surface. The membrane can be small and centrally located, or may extend out to attach to the ciliary process in 360 degrees

215

Is PFV usually unilateral or bilateral?

unilateral almost always

216

Are eyes with PFV usually larger or smaller than normal?

Eyes with PFV are almost always microphthalmic

217

When should a unilateral congenital cataract be removed for optimal visual development in infants?

Before 6 weeks of age

218

When should bilateral congenital cataracts be removed for optimal visual development in infants?

Before 10 weeks of age

219

Beyond what age is IOL implantation (in the setting of cataract surgery) considered reasonable?

beyond 1-2 years of age

220

Is the elasticity of the lens capsule higher or lower in infants than adults?

Higher in infants

221

Is phacoemulsification needed to remove lens material in a child?

No, it can usually be readily aspirated

222

Why is posterior capsulectomy (and limited anterior vitrectomy) often performed at the time of cataract surgery in infants and young children (especially if the patient is to be left aphakic)?

Posterior capsule opacification occurs rapidly in children, and would compromise the clear visual axis achieved by cataract surgery

223

At what age can a Nd:YAG capsulotomy be performed without anesthesia?

5-6 years

224

In what period of time will a post-infant child (i.e. 4+) develop opacification of the posterior capsule after cataract surgery?

18-24 months

225

Is closure of clear corneal incisions in children safe?

Yes, and astigmatically neutral when performed with 10-0 absorbable suture

226

If a posterior approach is desired for posterior capsulectomy, where can the incision be made?

In the pars plana

227

IOLs made of what materials are used in children?

PMMA and acrylic

228

Are highly asymmetric spectacle lenses amblyogenic?

Yes

229

Are retinal detachments, macular edema, and corneal decompensation common postoperative complications of cataract surgery in children?

No, they are all rare in children after cataract surgery

230

What is a common association of of spherophakia?

ectopia lentis leading to secondary glaucoma

231

What is a lens coloboma?

flattening or notching of the lens periphery (not technically a coloboma, but referred to as one anyway)

232

Are zonular fibers usually present in a "colobomatous" region of a lens?

No, zonular fibers are usually absent in the "colobomatous" region

233

What is a luxed lens?

One that is completely detached from the ciliary body

234

What are the clinical manifestations of ecoptia lentis et pupillae other than ectopia lentis and corectopia?

microspherophakia, miosis, poor pupillary dilation with mydriatics

235

Which systemic disease is seen most often in patients with ectopia lentis?

Marfan syndrome

236

In which direction is the lens usually dislocated in Marfan syndrome?

upward (in 75% of cases)

237

Are the zonules broken in Marfan syndrome with ectopia lentis?

No, unlike homocystinuria, in which the zonular fibers are broken with ectopia lentis

238

Are patients with Marfan syndrome usually myopic or hyperopic?

Myopic (increased axial length)

239

In what direction is the lens usually dislocated in homocystinuria with ectopia lentis?

downward, but it is not diagnostic

240

How is homocystinuria diagnosed?

detection of disulfides in the urine

241

What are patients with Weill-Marchesani syndrome considered clinically, in comparison to patients with Marfan syndrome?

Weill-Marchesani patients are considered the clinical opposite of Marfan syndrome patients. WM patients are short, with short fingers and limbs.

242

What is the usual ocular manifestation in Weill-Marchesani syndrome?

Microspherophakia, with eventual anterior dislocation of the lens and pupillary block glaucoma

243

What is the ocular manifestation of sulfite oxidase deficiency?

Ectopia lentis

244

Does posterior uveitis account for a smaller or larger proportion of uveitis cases in children than adults?

Posterior uveitis accounts for a larger proportion of uveitis cases in children than in adults

245

Under what name are all idiopathic childhood arthritides included?

Juvenile Idiopathic Arthritis (JIA)

246

What are the subtypes of JIA?

1) Systemic, 2) Oligo, 3) Poly (RF-neg), 4) Poly (RF-pos), 5) Psoriatic, 6) Enthesitis-related, 7) Other

247

Which subtypes of JIA are important causes of uveitis in children?

1) Oligo, 2) Poly (RF-neg), 3) Psoriatic, 4) Enthesitis-related

248

What is the most frequent type of chronic arthritis in children in North America?

Oligoarthritis

249

What types of uveitis are most likely to occur in oligoarthritis?

Anterior uveitis and iritis

250

In what percent of children with RF-negative polyarthritis does uveitis develop?

10%

251

What 4 primary factors affect the likelihood of children with JIA developing uveitis?

1) category of arthritis (oligo or poly increases risk), 2) age of onset of arthritis (younger age at onset increases risk), 3) ANA-positivity (presence increases risk), 4) gender (female increases risk)

252

Is JIA-associated uveitis usually bilateral or unilateral?

bilateral (although the enthesitis-related arthritis subtype usually presents with unilateral uveitis)

253

Is JIA-associated uveitis usually granulomatous or non-granulomatous?

non-granulomatous

254

What type of keratic precipitates are seen in JIA-associated uveitis?

Fine to medium-sized KPs

255

What conditions can chronic inflammation in JIA-associated uveitis lead to?

1) band keratopathy, 2) posterior synechiae, 3) ciliary membrane formation, 4) hypotony, 5) cataract, 6) glaucoma, 7) phthisis

256

Is uveitis seen in Tubulointerstitial Nephritis and Uveitis syndrome usually bilateral or unilateral?

Bilateral

257

Can pediatric orbital pseudotumor cause an anterior uveitis?

Yes

258

Where is inflammation seen in intermediate uveitis?

In the vitreous base overlying the ciliary body, pars plana, and peripheral retina, as well as the anterior vitreous

259

What percentage of pediatric uveitis is intermediate uveitis?

25%

260

What is the most common cause of posterior uveitis in children?

Toxoplasmosis

261

What are common ocular manifestations of ocular toxocariasis?

1) posterior pole granuloma with macular traction, 2) endophthalmitis, 3) leukocoria, 4) strabismus, 5) decreased vision

262

Is the incidence of lung disease in sarcoidosis higher or lower in children than adults?

lower in children

263

What is the most common ocular manifestation of sarcoidosis in children?

Anterior uveitis, although posterior uveitis may also occur

264

Which diseases are in the differential for Familial Juvenile Systemic Granulomatosis?

JIA and sarcoidosis

265

What complications of VKH syndrome are more likely in children than adults?

Cataract and glaucoma. Children have a poorer overall visual prognosis with VKH than adults.

266

What are the causes of panuveitis in children?

Sarcoidosis, Familial Juvenile Systemic Granulomatosis, VKH, Bechet syndrome, and several infectious diseases

267

Can AC flare (protein) persist after inflammation has been successfully treated and AC cell has resolved?

Yes

268

For how long after an injection can periocular steroids produce an elevation in IOP?

weeks to months

269

What are risks of long-term systemic corticosteroid use in children other than glaucoma and cataract?

1) growth retardation, 2) osteoporosis, 3) cushingoid appearance, 4) diabetes, 5) peptic ulcers, 6) myopathy, 7) HTN, 8) altered mental status, 9) pseudotumor cerebri, 10) increased risk of infection

270

Which 2 NSAIDs used to treat arthritides in children can also be effective in treating uveitis?

Naproxen and tolmetin

271

What is the most commonly used antimetabolite in treating children with arthritis and uveitis?

Methotrexate

272

Are alkylating agents commonly used in treating children with uveitis?

No, they have many serious adverse effects in children

273

How can band keratopathy be treated?

Debridement of corneal epithelium followed by chelation with EDTA

274

What is the most common cause of a unilateral cataract in children?

Persistent Fetal Vasculature (PFV)

275

What is the clinical presentation of a severe case of PFV?

1) Microphthalmic eye, 2) dense retrolental plaque leading to cataract, 3) thick fibrous persistent hyaloid artery, 4) prominent radial iris vessels, 5) congenital retinal nonattachment, 6) optic nerve dysmorphism, 7) shallow anterior chamber, 8) angle closure glaucoma

276

What are the keys to treatment of eyes with PFV?

Early cataract surgery and retrolental membrane excision

277

When does retinal vascular development begin?

week 16 of gestation

278

What is the source of retinal vessels?

Mesenchymal tissue containing spindle cells

279

When in development are the nasal and temporal ora serrata reached by retinal vessels?

Nasal ora serrata: 8th month; Temporal ora serrata: 9th month (or even later)

280

What percent of infants weighing less than 1251g at birth develop ROP?

68%

281

How are gestational age at birth and birth weight correlated with the likelihood of development of ROP?

Inversely correlated

282

Did the LIGHT-ROP study indicate a role for premature exposure to light in the development of ROP?

No, limiting light exposure did not decrease the incidence of ROP

283

What is the most commonly used classification for ROP at present?

International Classification of ROP (ICROP), which describes the disease by stage, zone, and extent

284

What are the 3 retinal zones in the ICROP classification of ROP?

I -- circle with radius 30 deg centered at disc; II -- annulus surrounding zone I ending at the nasal ora serrata; III -- remaining retina including temporal ora serrata

285

How is "Extent" described in the ICROP classification of ROP?

Number of clock hours

286

What is "Plus" disease in the ICROP classification of ROP?

"Plus" indicates that vascular shunting is so marked that the veins are enlarged and the arteries are tortuous in the posterior pole

287

What are the Stages (0-5) of ROP in the ICROP classification?

0 -- no ROP; 1 -- demarcation line without height; 2 -- demarcation line with height; 3 -- demarcation line with height AND extraretinal fibrovascular proliferation; 4) sbtotal retinal detachment (A: Extrafoveal, B: Including Fovea); 5) Total retinal detachment

288

What is "Pre-plus" disease in the ICROP classification of ROP?

Abnormal venous dilation and arteriolar tortuosity, but less so than in the Plus disease "standard photograph"

289

What is "threshold" ROP disease, as defined in the CRYO-ROP trial?

5 contiguous or 8 total clock-hours of: Stage 3 ROP in zone I or II with Plus disease

290

Is the macula part of Zone I, per the ICROP definitions?

Yes

291

What are the 2 types of "Prethreshold ROP" per the ETROP trial?

Type 1 -- Zone I, any stage AND (+); Zone I, stage 3 NO (+); Zone II, stage 2 or 3 AND (+). Type 2 -- Zone I, stage 1 or 2 NO (+); Zone II, stage 3 NO (+)

292

Which infants should be examined for ROP?

Any of: 1) gestational age < 30wks, 2) birth weight < 1500g, 3) birth weight 1500-2000g AND ( O2 supplementation OR unstable course )

293

When should the first examination for ROP be performed?

4-5 weeks after birth or 30-31 weeks gestational age, whichever is later

294

What mydriatic agent is recommended for ROP examination of infants?

Cyclomydril (0.2% cyclopentolate and 1.0% phenylephrine)

295

How often should follow-up ROP exams be performed after the first exam?

Every 1-2 weeks

296

When can follow-up ROP exams be ceased?

After retinal vessels have grown normally into zone III OR ( the patient is > 44-46 weeks postmenstrual age AND has not yet developed ROP )

297

What results was achieved by applying cryotherapy for ROP in patients with threshold disease?

50% reduction in retinal detachment compared to observation

298

Which is more severe, Prethreshold Type I disease or Type II?

Prethreshold Type I disease is worse than Type II (arguably unintuitive)

299

What did the ETROP study demonstrate?

That treatment at Prethreshold Type I or Threshold resulted in better outcomes than waiting until Threshold to treat

300

Which is more commonly used for treatment of ROP, laser photocoagulation or cryotherapy?

At present laser, has supplanted cryotherapy in the US as the treatment of choice for ROP

301

Is myopia a common sequela of ROP?

Yes

302

How does pseudostrabismus result from ROP?

Dragging of the macula can occur in ROP, which may give the appearance of an exotropia

303

What are the classic findings of Coats disease?

Yellow subretinal and intraretinal lipid exudates associated with retinal vascular abnormalities (telangiectasia, tortuosity, aneurysms, avascularity)

304

What is a common consequence of Coats disease that results in poor visual prognosis?

retinal detachment including the fovea, with organization of subretinal exudate

305

What is the average age at diagnosis of Coats disease?

6-8 years old

306

How can progression of Coats disease be stopped?

Destruction of leaking vessels (usually with laser photocoagulation or cryotherapy)

307

When is the usual onset of nystagmus in a child with hereditary retinal disease?

8-12 weeks old

308

What tests are available for evaluation of retinal disease in school-aged children?

ERG, EOG, color vision testing, visual fields, dark adaptation testing

309

What are the clinical characteristics of Leber Congenital Amaurosis (LCA)?

severe vision loss in infancy, nystagmus, poorly reactive pupils, extinguished ERG

310

What is the DDx for LCA?

achromatopsia, congenital stationary night blindness, albinism, optic nerve hypoplasia

311

Is there a single genetic test for LCA?

No, there are at least 14 different genetic mutations known to cause LCA and 30% of cases do not have recognizable mutations

312

What is hemeralopia?

The inability to see clearly in bright light

313

What are the findings in complete achromatopsia (also called rod monochromatism)?

no color vision, poor central vision, nystagmus, photophobia

314

What is the inheritance of the most common form of Congenital Stationary Night Blindness?

X-linked recessive

315

What is the ophthalmoscopic appearance of foveal hypoplasia?

Decreased or absent foveal reflex

316

What are the two most common hereditary macular disorders?

Stargardt disease (juvenile macular degeneration) and Best disease (juvenile-onset vitelliform macular dystrophy)

317

What are the characteristic fundus changes seen in Stargardt disease?

Macular bull's eye atrophy with possible "beaten bronze" appearance and surrounding round or pisciform yellow flecks at the level of the RPE

318

What is the "dark choroid sign?"

A sign on fluorescein angiography resulting from blockage of choroidal fluorescein due to accumulation of lipfuscin-like pigment throughout the RPE. It is present in 80% of patients with Stargardt disease.

319

What is fundus flavimaculatus?

A term used to describe a fundus with pisciform yellow flecks throughout at the level of the RPE

320

What is the inheritance of Best disease?

Autosomal dominant

321

What is the characteristic fundus appearance in Best disease?

an egg yolk-like (vitelliform) cystic structure in the macula 1.5 to 5 disc diameters in size appearing between the ages of 4 and 10 years

322

Best disease is caused by mutations in which gene?

VMD2 gene, also called bestrophin, on chromosome 11

323

What is the inheritance of Juvenile Retinoschisis?

X-linked recessive

324

Where does retinoschisis occur in Juvenile Retinoschisis?

in the NFL

325

What is the appearance of the fovea in juvenile retinoschisis?

star-shaped or spokelike

326

Juvenile retinoschisis is caused by mutation of which gene?

RS1

327

What are the ophthalmic manifestations of Stickler syndrome?

High myopia with high incidence of rhegmatogenous retinal detachment, lattice degeneration, and proliferative vitreoretinopathy. A hallmark of the syndrome is vitreous liquefaction.

328

Which types of Stickler syndrome demonstrate ocular features?

1, 2, and 4 (4 demonstrates only ocular features)

329

What are the ocular features of Familial exudative vitreoretinopathy (FEVR)?

retinal traction, folds, breaks, detachment, avascular peripheral retina, and retinal and subretinal exudates

330

What is the DDx of FEVR?

ROP and Coats disease

331

What are the ocular findings in Norrie disease?

Distinctive globular, severely dystrophic retina with pigmentary changes in the avascular periphery. Often presents with congenital blindness.

332

What is the inheritance of Norrie disease?

X-linked recessive

333

What are the clinical features of Goldmann-Favre Vitreoretinal Dystrophy?

Vitreous strands and veils in addition to foveal and peripheral retinoschisis

334

What refractive change can result from a sudden increase in blood glucose?

Myopic shift

335

What refractive change can result from a sudden decrease in blood glucose?

Hyperopic shift

336

Do children 9 or under require screening for diabetic retinopathy?

Per AAP guidelines, no, even if the child has had DM for 3-5 years.

337

What are the most common eye findings in leukemia in children?

Retinal hemorrhages. In particular, flame shaped hemorrhages occurring in the NFL.

338

What is the appearance of optic nerve involvement in leukemia?

Infiltration of the optic disc by leukemic cells results in translucent swelling of the disc, obscuring normal landmarks. The disc appearance is similar to that in papilledema, but can progress to appearing only as a white mass.

339

What are the major ophthalmic findings in all forms of albinism?

1) iris transillumination, 2) foveal hypoplasia or aplasia, 3) characteristic deficit of retinal pigmentation

340

What are the two forms of albinism involving the eye?

Oculocutaneous albinism (OCA) and ocular albinism (OA)

341

What abnormality is seen in the optic chiasm of a patient with albinism?

Abnormally large number of crossed fibers in the optic chiasm. This results in "misrouting" seen on VEP that is highly sensitive for albinism.

342

Which two syndromes can include albinism?

Hermansky-Pudlak and Chediak-Higashi

343

About what should all patients with albinism be counseled?

Risk of skin cancer

344

What is the most common eye defect in Lowe syndrome?

congenital bilateral cataracts

345

What lens finding can female carriers of Lowe syndrome demonstrate?

Punctate snowflake opacities oriented in a radial fashion within the lens cortex

346

What are the ophthalmic manifestations of Alport syndrome?

1) cataract, 2) anterior lenticonus, 3) fleck retinopathy

347

What is the etiology of a "cherry red spot" at the fovea?

Loss of transparency of the perifoveal retina due to edema or deposition of abnormal materials in retinal ganglion cells (which are not present in the fovea).

348

What type of disorder is associated with a "cherry red spot" finding?

Neurometabolic disorders

349

Does the absence of a cherry red spot in older children rule out the diagnosis of a neurometabolic disorder?

No, absence of cherry red spot may be due to death of the formerly intumescent and whitish appearing retinal ganglion cells.

350

Which disease is the most common of the gangliosidoses?

GM2 type I gangliosidosis (Tay-Sachs disease)

351

At what age is vision decreased in Tay-Sachs disease?

12-18 months

352

Other than cherry-red spot, what are 3 primary ophthalmic manifestations of Tay-Sachs disease?

1) nystagmus, 2) optic atrophy, 3) narrowing of retinal vessels

353

What are the two potential causes for a Morning Glory Disc anomaly?

1) abnormal closure of the embryonic fissure or 2) abnormal development of the distal optic stalk at its junction with the primitive optic vesicle

354

What are 3 primary features of the appearance of a Morning Glory Disc (MGD) anomaly?

1) Funnel-shaped excavation of the posterior fundus incorporating the optic disc, 2) surrounding RPE elevation, 3) central core of white glial tissue occupying position of normal cup

355

What workups should be performed in patients with MGD?

MRI and MRA to check for associated abnormalities of the carotid circulation (including moyamoya disease)

356

What does mild optic disc coloboma resemble?

Deep cupping of the optic nerve. May be confused with glaucomatous damage.

357

Where are retinal ganglion cell axons myelinated normally?

From LGN to lamina cribrosa. NOT in the retina.

358

What is the visual field result of myelination of nerve fibers in the RNFL?

absolute scotomata corresponding to the myelinated areas

359

What is the appearance of myelinated retinal nerve fibers?

1) White superficial retinal area with feathered edges, 2) obscuration of retinal vessels, 3) often located along the disc margin

360

What is the usual orientation of disc tilting in Tilted Disc Syndrome?

Superior pole tilted anteriorly (appearing elevated) and Inferior pole tilted posteriorly. May occasionally be tilted horizontally.

361

What is a Bergmeister papilla?

A remnant of the hyaloid artery consisting of only glial tissue on the disc in association with pre-papillary veils and epi-papillary membranes

362

What is the common refractive error seen in patients with Tilted Disc Syndrome (TDS)?

Myopic astigmatism

363

Tilted Discs combined with myopic astigmatism, decreased vision, and poor night vision indicate what syndrome?

X-linked CSNB

364

What is megalopapilla?

an abnormally large optic disc diameter, often associated with an increased cup-disc ratio

365

What is optic nerve hypoplasia (ONH)?

decreased number of axons in the optic nerve

366

What is the "double ring sign?"

A yellow to white ring around the optic disc seen in Optic Nerve Hypoplasia (ONH). Outer ring: normal junction between sclera and lamina cribrosa. Inner ring: abnormal extension of retina over outer portion of lamina cribrosa.

367

Cerebral hemisphere abnormalities occur in what percentage of patients with ONH?

45%

368

What percent of patients with ONH have pituitary abnormalities?

15%

369

What maternal ingestions are associated with ONH?

1) phenytoin, 2) quinine, 3) LSD, 4) alcohol

370

Where do optic nerve pits usually occur?

Inferotemporal quadrant or central portion of disc

371

What is peripapillary staphyloma?

posterior bulging of the sclera in which the optic disc occupies the "bottom of the bowl"

372

What is the age of onset of dominant optic atrophy?

Before 10 years of age

373

What is the color vision deficit in dominant optic atrophy?

tritan dyschromatopsia

374

Is external ophthalmoplegia associated with Behr Optic Atrophy?

Yes

375

What is the inheritance of Leber Hereditary Optic Neuropathy (LHON)?

Maternal (mitochondrial)

376

What are the 3 hallmark findings at presentation of LHON?

1) acute or subacute bilateral loss of central vision, 2) acquired red-green dyschromatopsia, 3) central or cecocentral scotoma

377

What is the age of onset of LHON?

10s to 30s

378

Is LHON seen in predominantly males or females?

males

379

What cardiac arrhythmia is associated with LHON?

Wolff-Parkinson-White syndrome

380

Mutation in what is responsible for LHON?

Complex I (NADH: ubiquinone oxidoreductase)

381

Is optic neuritis in children more or less often bilateral than in adults?

more often bilateral in children

382

Is there an agreed upon treatment for optic neuritis in children?

No, steroids are controversial for optic neuritis in children

383

What findings are indicated by the term neuroretinitis?

Inflammatory disc edema associated with macular star formation

384

What are common etiologies of neuroretinitis in children?

1) Cat-scratch disease, 2) Mumps, 3) Toxocara, 4) TB, 5) Syphilis

385

How can intracranial pressure be assessed in infants clinically, without the use of an ophthalmoscope?

Assessment of the open fontanelles for distention and firmness

386

Is there a gender predominance of IIH in prepubescent children?

No, only female predominance in post-pubescent children and adults

387

What medical treatments are available for IIH?

Acetazolamide and topiramate

388

What are common etiologies of pseudopapilledema in children?

1) Optic disc drusen, 2) hyperopia, 3) prominent glial tissue

389

Children with which two conditions have a higher incidence of optic disc drusen than the general population?

1) Pseudoxanthoma elasticum, 2) Retinitis pigmentosa

390

What are the 3 categories of children presenting with nystagmus?

1) Motor defect compatible with good visual function, 2) ocular abnormality that may affect visual development, 3) Neurologic abnormality requiring immediate intervention

391

Where is the null point of nystagmus usually located?

the gaze opposite the fast-phase direction (Alexander's law)

392

What is the null point of nystagmus?

The gaze location where the nystagmus is minimal (typically seen in jerk nystagmus).

393

What type of head turn and gaze preference would a patient with a right jerk nystagmus likely adopt (in accordance with Alexander's law)?

Left gaze preference and right head turn to compensate for left gaze preference.

394

What are the characteristics of congenital motor nystagmus?

1) Binocular, 2) conjugate, 3) horizontal

395

Is oscillopsia common in congenital motor nystagmus?

No, it is rare.

396

Does convergence dampen congenital motor nystagmus?

Yes.

397

What effect is damping with convergence in congenital motor nystagmus thought to have on eye alignment?

It is thought to induce an esotropia (situation is termed nystagmus blockage syndrome)

398

What percent of patients with CMN exhibit paradoxical inversion of the OKN response?

67%

399

What is the cause of congenital sensory nystagmus?

bilateral, pregeniculate, afferent visual pathway abnormality

400

What is the typical orientation of congenital sensory nystagmus?

Horizontal

401

With what congenital disorder is congenital Periodic Alternating Nystagmus (PAN) associated?

oculocutaneous albinism

402

What does latent nystagmus indicate?

maldevelopment of fusion

403

What are the characteristics of latent nystagmus?

conjugate, horizontal, jerk

404

What happens when one eye is occluded with a child who has latent nystagmus?

A jerk nystagmus develops in both eyes, with the fast phase directed toward the uncovered eye

405

Where is the null point in latent nystagmus?

With the fixating eye held in adduction

406

What increases latent nystagmus?

disruption of fusion

407

What should be avoided when testing visual acuity of a patient with latent nystagmus?

occlusion of the non-tested eye, since optimal visual acuity is achieved with fusion (and damping of nystagmus)

408

What is spasmus nutans?

an acquired nystagmus presenting by age 2 years as a triad of 1) nystagmus, 2) head nodding, and 3) torticollis

409

What is a mnemonic for the direction of torsion in see-saw nystagmus?

Think of the eye "rolling down the plank" of the see-saw --> high eye intorts, low eye extorts

410

What is the intracranial tumor most commonly associated with see-saw nystagmus in children?

Craniopharyngioma

411

Where is the lesion causing see-saw nystagmus usually found?

rostral midbrain or suprasellar area

412

What are the two common causes of convergence-retraction nystagmus in children?

1) congenital aqueductal stenosis, 2) pinealoma

413

Is opsoclonus a true nystagmus?

No, it does not have a slow phase.

414

What is opsoclonus?

a very high frequency, low-amplitude movement of the eyes

415

What are the three common causes of opsoclonus in children?

1) postinfectious cerebellar ataxia, 2) epidemic viral encephalitis, 3) paraneoplastic manifestation of occult neuroblastoma

416

What is a common cause of acquired downbeat nystagmus in children?

Arnold-Chiari malformation

417

What is dissociated nystagmus?

nystagmus only in the abducting eye

418

What is are the usual characteristics of a monocular nystagmus?

pendular oscillation, vertical, low irregular frequency, low amplitude

419

To correct a head position associated with nystagmus, which direction should the base of the prisms be facing?

In the direction of the fast phase. (The apex of each prism will point in the direction of the null point)

420

What is a limitation of prism treatment of a nystagmus-induced head turn?

Unlike surgery, prisms will not bring the eyes out of the gaze position necessary to achieve the null zone

421

What does muscle surgery for nystagmus-induced head turn attempt to do?

shift the null point closer to primary position

422

What is the name given to the bilateral recession-resection procedure used to treat nystagmus-induced head turn?

Kestenbaum-Anderson procedure

423

In which direction is a head turn in conjugate horizontal nystagmus?

In the same direction as the fast phase of the nystagmus

424

What are 5 aspects of the clinical presentation of nearly all space-occupying lesions of the orbit?

1) proptosis/globe displacement, 2) swelling of the eyelids, 3) palpable subcutaneous mass, 4) ptosis, 5) strabismus

425

What are the 8 classes of orbital lesions?

1) Cystic, 2) Vascular, 3) Inflammatory, 4) Lymphoproliferative, 5) Mesodermal, 6) Neurogenic, 7) Lacrimal gland, 8) Metastatic

426

What are the 7 classes of eyelid lesions in children?

1) Chalazion, 2) Hordeolum, 3) Benign epithelial and appendage tumors, 4) Papilloma, 5) Molluscum, 6) Cutaneous horn, 7) Rhabdomyosarcoma

427

What are the 6 classes of epibulbar lesions in children?

1) Papilloma, 2) Limbal dermoid, 3) Choroidal osteoma, 4) Choroidal melanoma, 5) teratoma, 6) Rhabdomyosarcoma

428

Do sarcomas form the majority of primary malignant orbital tumors in children?

Yes

429

What is the most common primary pediatric orbital malignant tumor?

Rhabdomyosarcoma

430

Should primary diagnosis of rhabdomyosarcoma be made with FNAB?

No

431

What are the most common histopathologic types of rhabdomyosarcoma in decreasing order of frequency?

1) embryonal, 2) alveolar, 3) botryoid

432

What is the 5-year survival of patients with primary orbital embryonal type rhabdomyosarcoma?

94%

433

What is the most common site of ocular metastasis and children?

The orbit

434

What is the mean age at diagnosis of patients with orbital neuroblastoma metastasis?

2 years

435

What percent of patients with neuroblastoma show clinical evidence of orbital involvement?

20%

436

What type of eye movement is a characteristic paraneoplastic finding associated with neuroblastoma?

Opsoclonus

437

What is the second most common form of orbital metastasis and children?

Ewing sarcoma

438

What is the most common malignant disease of childhood?

Leukemia

439

What percent of cases of childhood leukemia are acute?

95%

440

Is lymphoma likely to involve the orbit and children?

No

441

The old terms cavernous hemangioma, port-wine stain, and lymphangioma should all be called what under new nomenclature?

Vascular malformations

442

The old terms capillary hemangioma and strawberry hemangioma should now be referred to as what?

Simply, "hemangioma"

443

What are hemangiomas?

Hamartomatous growths composed of proliferating capillary endothelial cells

444

What are two common forms of hemangioma classification?

1) by depth of skin involvement (superficial/deep/mixed), 2) by type of orbital involvement (preseptal/intraorbital/mixed)

445

What is the incidence of hemangioma in newborns?

1% to 3%

446

What complications may occur during the rapid growth phase of the hemangioma?

Ulceration, hemorrhage, astigmatism, amblyopia

447

When do hemangiomas usually tend to begin to regress?

After one year of life

448

What are they eye abnormalities associated with PHACE(S) syndrome?

hemangiomas, increased retinal vascularity, microphthalmia, ONH, exophthalmos, strabismus, colobomas, cataracts, and glaucoma

449

Infants with more than how many visible hemangiomas should be evaluated for visceral hemangiomas?

more than 3 cutaneous lesions

450

What routes of administration can be used with steroid treatment for hemangiomas in children?

Topical, Intralesional, Systemic

451

What dosing of propranolol has been shown to induce involution of most hemangiomas?

0.5 to 2mg/kg/day in 3 divided oral doses

452

Which topical beta blocker has shown efficacy as a topical treatment for hemangiomas?

timolol maleate

453

What are vascular malformations?

developmental anomalies that can be derived from capillary, venous, arterial, or lymphatic vessels

454

Do vascular malformations exhibit significant growth?

no, they are relatively static, especially when compared to hemangiomas

455

What is another term for Sturge-Weber syndrome?

Encephalotrigeminal angiomatosis

456

What is the technical term for a port wine stain (nevus flaemmus)?

A capillary malformation

457

Is glaucoma a complication of Sturge-Weber syndrome?

Yes, and it can be difficult to treat in Sturge-Weber syndrome

458

What percentage of optic pathway gliomas are associated with NF1?

20%

459

What is meant by the term choristoma?

A growth consisting of normal cells and tissues appearaing at an abnormal location

460

What is the most common space occupying orbital lesion of childhood?

Dermoid cyst

461

What is a teratoma?

A choristomatous tumor containing multiple tissues derived from all 3 germinal layers

462

Are orbital teratomas usually malignant in children?

No, unlike teratomas found at other locations

463

How does the childhood form of idiopathic orbital inflammatory disease (orbital pseudotumor) differ from the adult form?

The childhood form is more acute and painful. It resembles an orbital cellulitis rather than tumor or TED

464

What are common features of orbital myositis?

Diplopia, conjunctival chemosis, orbital pain

465

What is the usual natural history of papillomas in children?

They are usually caused by a viral infection and tend to disappear spontaneously.

466

Can oral cimetidine be used to treat papillomas in children?

Yes

467

Are dermoid tumors and dermoid cysts related?

No, they are completely different entities

468

What is the usual appearance of a limbal dermoid tumor?

1) whitish dome-shaped mass, 2) usually located in inferotemporal quadrant, 3) diameter of 2-10mm, 4) thickness of 1-3mm

469

Is there urgency to remove a limbal dermoid tumor?

No, unless irritation signficant or amblyopia is present

470

Are PAM or malignant melanoma of the conjunctiva common in childhood?

No, both are extremely rare in childhood

471

What is the difference between chalazia and hordeola?

Chalazia arise from blocked meibomian glands, while hordeola arise from blocked eccrine and apocrine glands

472

Does the treatment for chalazia and hordeola different?

Not significantly -- both can be treated with lid scrubs, warm compresses, doxycycline (> 8 yo), and surgery if chronic or large

473

What is juvenile xanthogranuloma (JXG)?

a nonneoplastic histiocytic proliferation involving Touton giant cells that develops in infants < 2 years old

474

What is the treatment usually required for a medulloepithelioma (diktyoma) of the ciliary body?

Enucleation

475

What is the appearance of CHRPE?

1) sharply demarcated, 2) flat, 3) hyperpigmented, 4) isolated, multifocal, or grouped (bear tracks)

476

What condition is strongly associated with CHRPE?

Familial adenomatous polyposis (FAP)

477

What is Gardner syndrome?

a phenotypic variant of FAP

478

What is the most common malignant ocular tumor of childhood?

retinoblastoma

479

What is the incidence of retinoblastoma?

1 in 15,000

480

What is the most common initial sign of retinoblastoma?

leukocoria

481

Can spontaneous regression of retinoblastoma occur?

Yes, resulting in the development of a benign retinocytoma or phthisis bulbi

482

Why is MRI preferred over CT for evaluation of retinoblastoma?

Retinoblastoma patients have high risk of secondary tumors

483

For what does the RB1 gene code?

a tumor suppressor protein called pRB

484

Should a surgeon performing enucleation for retinoblastoma obtain a long segment of optic nerve?

Yes

485

What is the most commonly used vision-sparing techique for treatment of retinoblastoma?

chemotherapy (chemoreduction) followed by local therapy (cryo, laser thermo, or plaque radiotherapy)

486

What is the most common retinal lesion simulating retinoblastoma?

Coats disease

487

What is a distinction that helps identify retinoblastoma on multiple imaging modalities among the many potential causes of leukocoria?

presence of calcium

488

Why is external beam radiotherapy seldom used as the primary treatment of intraocular retinoblastoma?

High association with development of craniofacial deformity and secondary tumors in radiation field

489

What is the likelihood of a patient with a unifocal retinoblastoma tumor in one eye developing retinoblastoma in the fellow eye?

20%

490

What is another term for phakomatosis?

Neurocutaneous syndrome

491

Where are the lesions of phakomatoses usually found?

CNS and skin (hence the alternate name Neurocutaneous syndromes). All the major phakomatoses have eye findings as well.

492

What histopathologic classification is usually given to the lesions of the phakomatoses?

Hamartoma

493

What is another name for von Hippel-Lindau disease?

Angiomatosis of the retina and cerebellum

494

What is another name for Sturge-Weber syndrome?

encephalofacial or encephalotrigeminal angiomatosis

495

What are the four major phakomatoses?

1) Neurofibromatosis, 2) Tuberous Sclerosis, 3) von Hippel Lindau, 3) Sturge-Weber

496

From what origin do melanocytes and neuroglial cells both derive?

neural crest mesenchyme

497

What is the penetrance of NF1?

Nearly 100%

498

What is the inheritance of NF1 and NF2?

Autosomal dominant for both

499

On which chromosomes are the NF1 and NF2 genes found?

17 and 22, respectively

500

For what does the NF1 gene code?

neurofibromin, which is involved in regulation of cellular proliferation and tumor suppression

501

Which form of NF is more common?

NF1 by far, with prevalence of 1/3000

502

How many criteria out of the 7 for diagnosis of NF1 are required for diagnosis?

only 2 of 7

503

What is the apperance of cafe-au-lait spots?

1) flat, 2) sharply demarcated, 3) uniformly hyperpigmented macules, 4) varying shape and size

504

What are the 7 criteria used in diagnosis of NF1?

1) 6+ CAL spots >5mm (>15mm postpubescent), 2) 2+ neurofibromas or 1+ plexiform neurofibroma, 3) freckling of intertriginous areas, 4) 2+ Lisch nodules, 5) optic pathway glioma, 6) a distinctive osseous lesion (sphenoid bone dysplasia or thinning of long-bone cortex), 7) 1st degree relative with NF1

505

What are Lisch nodules?

1) small (<1mm), 2) melanocytic, 3) sharply demarcated, 4) dome-shaped excrescences of the iris

506

How does the appearance of Lisch nodules differ on light and dark irides?

On dark irides, Lisch nodules appear LIGHTER than surroundings. On light irides, Lisch nodules appear DARKER than surroundings

507

What are the two primary types of neurofibromas in NF1?

1) Nodular neurofibromas (more common), 2) Plexiform neurofibromas (more clinically significant)

508

What percent of plexiform neurofibromas involve the face?

10% (often the upper eyelid and orbit)

509

What characteristic configuration of the upper eyelid is seen with presence of a plexiform neurofibroma?

S-shaped configuration. Eyelid looks too big for eye.

510

What are complications of a plexiform neurofibroma involving the upper eyelid?

Ptosis --> amblyopia, conjunctival irritation, glaucoma (50%)

511

Can plexiform neurofibromas undergo malignant change?

Yes, but rarely do.

512

Is full surgical excision of a plexiform neurofibroma involving the eyelid usually possible?

No, it is generally not possible.

513

What histologic characterization do optic pathway gliomas of NF1 generally have?

low-grade pilocytic astrocytoma

514

What percent of patients with NF1 have an optic pathway glioma?

15% (1%-5% have symptomatic optic pathway gliomas)

515

When do symptomatic optic pathway gliomas in NF1 usually present?

Before the patient is 10 years old

516

What are possible complications of optic pathway glioma?

1) vision loss, 2) hydrocephalus, 3) hypothalmic dysfunction, 4) pituitary dysfunction, 5) death

517

What is buphthalmos?

Enlargement of the cornea and globe as a whole in the due to increased IOP in the first 2 years of life

518

What features should be included in an exam on a patient suspected of having NF1?

1) vision assessment (both acuity and color discrimination), 2) assessment for APD, 3) examination of iris at slit-lamp, 4) assessment for disc pallor or edema, 5) IOP measurement

519

What happens to the quantity of Lisch nodules as a patient with NF1 ages?

It grows (adult patients may have hundreds). The absence of Lisch nodules in an adult is thought by some to rule out the diagnosis of NF1.

520

How much more common is NF1 than NF2?

approximately 10x

521

How is NF2 diagnosed generally?

By the presence of bilateral acoustic (8th nerve) tumors

522

How does NF2 generally present?

with decreased hearing, tinnitus, or lens opacity (PSC cataract or wedge cortical cataract)

523

What are the two genes involved in Tuberous Sclerosis (TS)?

Hamartin and tuberin (both tumor suppressors)

524

What is the Vogt triad for TS findings?

1) mental retardation, 2) seizures, 3) facial angiofibromas

525

What are the criteria for diagnosis of TS?

Any one of: 1) facial angiofibroma, 2) multiple ungual fibromas, 3) cortical tuber, 4) subependymal nodule, 5) multiple retinal astrocytomas

526

What is the appearance of an "ash leaf spot" of TS?

1) sharply demarcated, 2) ash leaf shape, 3) hypopigmented skin lesion

527

What is a shagreen patch?

Also known as a collagenoma, it is a thickened plaque of skin occurring in 1/4 of TS cases, typically in the lumbosacral area

528

What percent of children with TS experience seizures?

80%

529

What is the usual size of a retinal astrocytic hamartoma in TS?

1/2 to 2x the diameter of the optic disc

530

What are the two common appearances of retinal astrocytomas in TS?

1) flat gray, 2) tapioca cluster, yellowish-white

531

What are the most common findings in von Hippel-Lindau (vHL) disease?

Vascular tumors (hemangioblastomas) of the retina and cerebellum

532

What is the age of onset of vHL disease?

10-35 years (average 25 years)

533

What is the fully developed appearance of a retinal hemangioblastoma?

pink globular mass 1-3 disc diameters in size

534

How do retinal hemangioblastomas lead to vision loss in vHL?

leakage of fluid into the subretinal space, leading to retinal detachment

535

What are the clinical features of Sturge-Weber syndrome (SWS)?

1) facial cutaneous angioma (port-wine stain), 2) ipsilateral leptomeningeal vascular malformation

536

What are the clinical complications of SWS?

1) cerebral calcification, 2) seizures, 3) focal neurologic deficits (hemianopia, hemiparesis), 4) mental deficiency

537

Is SWS genetically transmitted?

No, it is unique among the 4 major phakomatoses in that way

538

Do all children with a port-wine stain have SWS?

No

539

Of what does the port-wine stain of SWS consist?

excessively numerous, dilated, well-formed capillaries in the dermis

540

Are the findings of SWS usually present at birth?

They are actually always present at birth, and are thought to occur very early in development (4-8 wks gestation)

541

What is the most common ocular complication of SWS?

glaucoma, occurring in 70% of patients with SWS

542

What are the ocular findings in ataxia-telangiectasia (AT)?

1) motor abnormalities (inability to initiate saccades), 2) conjunctival telangiectasia

543

What percent of children with AT have conjunctival telangiectasia?

91%

544

What is the earliest ocular feature of AT?

Ocular motility dysfunction

545

What is the inheritance of incontinentia pigmenti (IP)?

X-linked dominant

546

What is the primary ocular finding in IP?

1) proliferative retinal vasculopathy resembling ROP

547

What is the typical ocular lesion of Wyburn-Mason syndrome (racemose angioma)?

Markedly dilated and tortuous vessels acting as AV fistulae while not leaking fluid

548

What is craniosynostosis?

Premature closure of 1 or more cranial sutures during the embryonic period or early childhood

549

A large proportion of the craniosynostosis syndromes are related to mutations in which genes?

The FGFR (1, 2, and 3) and TWIST genes

550

Do patients with Crouzon syndrome generally have normal intelligence?

Yes

551

Do patients with Crouzon syndrome normally have hand or foot abnormalities?

No, unlike many of the other craniosynostosis syndromes.

552

What are the 8 common ocular complications of the craniosynostoses?

1) proptosis, 2) corneal exposure, 3) globe luxation, 4) vision loss, 5) amblyopia, 6) strabismus, 7) optic nerve abnormalities, 8) adnexal anormalities

553

What are the ocular hallmarks of Goldenhar syndrome?

Epibulbar dermoids (usually inferotemporal quadrant, hidden by eyelids) and limbal dermoids. Microphthalmia and eyelid colobomas may also occur.

554

What are the classic ocular characteristics of fetal alcohol syndrome (FAS)?

1) short palpebral fissures, 2) telecanthus, 3) epicanthus, 4) ptosis, 5) microphthalmos, 6) strabismus (esotropia in particular)

555

What is the ratio of males to females presenting with ocular trauma in childhood?

3:1

556

What outranks trauma as a leading reason for ocular surgery in children?

Strabismsus (trauma is #2)

557

What is the most common intracranial finding in shaken baby syndrome?

Subdural hematoma

558

What are the most common ocular manifestations of shaken baby syndrome?

1) Retinal hemorrhage (most common), 2) perimacular folds, 3) retinoschisis cavities

559

What imaging study should be performed in a child if there is any reason to suspect an intraocular or intraorbital foreign body?

CT of the orbits

560

What should be on the DDx for hyphema in infants and children?

1) trauma, 2) retinoblastoma, 3) juvenile xanthogranuloma of the iris, 4) bleeding diathesis from leukemia or other blood dyscrasia

561

Is there universally accepted medical treatment for hyphema in children at present?

No (some advocate steroids, cycloplegics, and/or antifibrinolytics)

562

What type of orbital fracture is rare in adults but common in early childhood?

Orbital roof fractures (usually due to impact to the brow region in a fall)

563

What is the usual presenting sign of an orbital roof fracture in a child?

Hematoma of the upper eyelid

564

When should a blink reflex to bright light be present in a neonate?

within a few days after birth

565

By what age should a baby be able to make and maintain eye contact with other humans?

6 weeks

566

By what age should infants be interested in bright objects?

2-3 months

567

What is sunsetting?

tonic downward deviation of both eyes

568

After what age are disconjugate eye movements, skew deviation, and sunsetting no longer considered normal in infants?

after 4 months

569

What is the oculodigital sign?

An infant habitually pressing on the eye with a finger or fist in an effort to induce a phosphene (perception of light without light actually striking the retina)