Pediatric Ophthalmology Flashcards
(239 cards)
1
Q
What is the classic triad for congenital glaucoma and the modality of imaging and exam findings to monitor this condition?
A
Congenital glaucoma triad
• Blepharospasm
• Photophobia
• Epiphora
Imaging and exam findings to monitor the disease
• A scan
• Reversible cupping is seen as the disease process is
treated appropriately
2
Q
What is a “phoria”?
A
• Latent deviation that is controlled by fusional
mechanism so eyes remain aligned under binocular
conditions
• Apparent when fusional control is lost
3
Q
What is a “tropia”?
A
• Manifest deviation that cannot be controlled by
fusional mechanism
• Eyes are misaligned even under binocular conditions
4
Q
What are the different ways of measuring visual acuity in a preverbal child?
A
• Blink to light
• Fix and follow
• Central steady maintained
• Teller card
• VEP
• OKN
5
Q
What is the origin of the superior rectus?
A
Annulus of Zinn at orbital apex
6
Q
What is the functional origin of the superior oblique?
A
Trochlea
7
Q
What is cerebral visual impairment?
A
● Retrogeniculate visual impairment
● Visual deficits resulting in pathology posterior to lateral
geniculate nucleus
● Common causes
○ Periventricular leukomalacia (most common)
○ Intracranial hemorrhage
○ Perinatal hypoxia
○ Intrauterine infection
○ Structural abnormalities
○ Seizures
○ Hydrocephalus
○ Trauma
○ Meningitis
○ Encephalitis
● Exam findings
○ Variable level of visual inattentiveness
○ Subtle optic nerve cupping (similar to glaucomatous
cupping) in preterm infants
● Work up: neuroimaging
8
Q
What are the findings in unilateral and bilateral superior oblique (SO) palsy?
A
Unilateral SO palsy
• Little if any V pattern
• Less than 10 degrees of extorsion in downgaze
• Head tilt toward should opposite side of weakness
• Subjective incyclodiplopia is uncommon unless palsy is
severe
Bilateral SO palsy
• V pattern
• Extorsion is 10 degrees or more in downgaze; >20
degrees is highly suggestive of bilateral involvement
• Chin down position
• Subjective incyclodiplopia is common in acquired
cases
9
Q
What is an important risk when simultaneous surgery on three or more rectus muscles occurs and its clinical presentation?
A
● Anterior segment ischemia occurs because majority of
blood supply to anterior segment derives from
anterior ciliary arteries which travel in the 4 rectus
muscles
● Clinical findings:
○ Cell and flare (earliest sign)
○ Corneal edema
○ Pupil irregularity
10
Q
What is the pathophysiology of midface hypoplasia?
A
Cranial malformation due to premature closure of skull
base suture
11
Q
What is hypertelorism?
A
Excessive distance between medial orbital walls
12
Q
What is telecanthus?
A
Greater than normal distance between medial canthus
13
Q
What is craniosynostosis?
A
Premature closure of one or more cranial sutures during
embryonic period or early childhood
14
Q
What is plagiocephaly?
A
● Most common craniosynostosis
● Means “oblique head”
● Cause: external compressive forces, occurring
prenatally or during infancy
● Types
○ Deformational plagiocephaly → due to
intrauterine constraint (oligohydramnios),
ipsilateral occipital flattening
○ Unilateral coronal suture synostosis → also due
to intrauterine constraint. Synostotic side →
forehead and supraorbital rim are depressed,
interpalpebral fissure wider, orbit is often
higher than nonsynostotic side
15
Q
What is brachycephaly?
A
• Bilateral closure of coronal sutures
• Wide and flat forehead
16
Q
What is scaphocephaly?
A
• Premature closure of sagittal suture
• Long head
17
Q
Which cycloplegic eye drop can cause the most allergic or hypersensitivity reactions?
A
• Atropine
• Systemic side effects: fever, dry mouth, flushing,
tachycardia, urinary retention, delirium, nausea,
dizziness
18
Q
What is the panum’s area of single binocular vision?
A
• A visual system that can combine slightly disparate
points within a limited area surrounding the
horopter
• Objects in this space on disparate retinal points but
are physiologically seen single
• Objects outside Panum’s area fall on widely
disparate retinal points and are seen as lying in 2
visual directions, results in physiologic diplopia
19
Q
What is Brown syndrome?
A
• Positive forced duction (restriction from trochlea
superior oblique complex)
• V pattern
• None or minimal superior oblique muscle overaction
• No torsion
• Negative head tilt test
• Deficient elevation in adduction (due to various
abnormalities of tendon trochlea complex)
20
Q
What are the clinical findings in inferior oblique muscle palsy?
A
• Intorsion of hypotrophic eye (due to superior
oblique overaction)
• Positive head tilt test
• Deficient elevation in adduction
21
Q
What are primary iris stromal cysts?
A
• Often diagnosed in infancy
• Due to sequestration of epithelium during
embryologic development
• Epithelium lined stromal cysts containing goblet
cells
• If enlarged → associated with blockage of visual
axis, corneal decompensation, glaucoma, iritis due
to leakage of cysts of contents
• Treatment: surgical excision
22
Q
Polychromatic lenticular deposits (“Christmas tree” cataract) is seen in which condition?
A
Myotonic dystrophy
23
Q
What is Myotonic dystrophy and its findings?
A
• Inability to relax muscles when stimulated
• Ptosis
• CPEO
• Hypotony due to ciliary body detachments
• Peripheral pigmentary retinopathy cardiac
conduction abnormalities
• Christmas tree cataracts
• Sluggish pupils
• EMG (diagnostic) myotonic discharges
•”hatchet face” wasting of temporalis and master
muscle, frontal balding, low intelligence
24
Q
What is the most common location of a limbal dermoid?
A
• Inferotemporal limbus
• Associated with Goldenhar syndrome
(oculoauriculovertebral syndrome) = hemifacial
microsomia, ear deformities, upper eyelid
colobomas, vertebral anomalies
25
What is the difference between atopic keratoconjunctivitis and vernal keratoconjunctivitis?
• AKC: superior and inferior conjunctiva with papillae
and possible scarring. Occurs year around.
Susceptible patient → asthma, eczema, atopic
dermatitis
• VKC: seasonal propensity. Affects superior palpebral
conjunctiva
• BOTH VKC and AKC preferentially affect males
26
What is congenital CN4 palsy?
• Head tilt
• Facial asymmetry
• Large vertical fusional amplitudes
27
What is JIA?
• Most common cause of uveitis in pediatric age
group
1. Oligoarthritis (4 or less joints) most likely to have
anterior uveitis, 10 30%
2. RF negative polyarthritis uveitis in 10%
3. Psoriatic arthritis uveitis in 10%
4. Systemic arthritis/Still's disease uveitis rarely
occurs
28
What is chemical ophthalmia neonatorum?
• First 24 hours, due to silver nitrate, resolves by day 2
of life
29
What is ophthalmia neonatorum due to Neisseria gonorrhoeae?
• Occurs 3 4 days of life up to 3 weeks after birth
• Most amount of purulent discharge compared to
other forms
• Acquired during passage through birth canal (occurs
with C section if amniotic membranes rupture prior)
30
What is ophthalmia neonatorum due to Chlamydia?
• Occurs at around 7 days of life
• Can occur earlier if there is rupture of maternal
amniotic membranes
• Acquired during passage through birth canal (occurs
with C section if amniotic membranes rupture prior)
31
What is ophthalmia neonatorum due to HSV?
• Occurs at 2 weeks of life
• Very rare
• Acquired during passage through birth canal (can
occur with C section if amniotic membranes rupture
prior)
32
What is the cause of CN6 palsy in children?
• 1/3 patients have intracranial lesions
• More common in older children than at birth or
during infancy
• Face turn protective against amblyopia, produce
single binocular image
33
What is the length of the active muscular portion of the medial/inferior/lateral/superior rectus?
• 40 mm
34
What is the length of the active muscular portion of the superior oblique?
• 32 mm
35
What is the length of the active muscular portion of the inferior oblique?
• 37 mm
36
What are the extraocular muscles with the longest tendons?
• Superior oblique (26 mm)
• Levator (14 20 mm)
37
What is the longest overall extraocular muscle?
• Superior oblique
• Active muscle (32 mm) + tendon (26 mm)
38
What is the smallest overall extraocular muscle?
• Inferior oblique
• Active muscle (37 mm) + tendon (1 mm)
39
An "A pattern" difference in measurement between upgaze and downgaze is AT LEAST how many PD?
• 10 PD
40
A "V pattern" difference in measurement between upgaze and downgaze is AT LEAST how many PD?
• 15 PD
41
What does the mnemonic "MALE” stand for, in relation to strabismus surgery?
• Medial recti are always displaced toward "Apex" of
pattern
• Lateral recti are displaced toward "Empty" part of
the pattern
42
What are the ways to correct V pattern esotropia without oblique dysfunction?
• Either:
1. bilateral medial rectus recessions displaced
inferiorly
2. bilateral lateral rectus resections displaced
superiorly
43
What are the spiral of Tillaux measurements?
• Medial rectus 5.5 mm
• Inferior rectus 6.5 mm
• Lateral rectus 6.9 mm
• Superior rectus 7.7 mm
44
What is another name for Neurofibromatosis type 1?
• von Recklinghausen disease
45
What is another name for Sturge Weber syndrome?
• Encephalotrigeminal angiomatosis
46
What is another name for Wyburn Mason syndrome?
• Bonnet Dechaume Blanc syndrome
47
What is another name for tuberous sclerosis?
• Bourneville’s disease
48
What is another name for Neurofibromatosis type 2?
• Multiple inherited schwannomas, meningiomas,
ependymomas (MISME)
49
What are the sporadic, non inherited phakomatoses?
• Wyburn Mason syndrome
• Sturge Weber syndrome
50
At what age is it normal to start making eye contact and react with facial expressions?
• 6 weeks of age
51
What is the differential diagnosis for ectopia lentis?
• Trauma
• Marfan
• Homocystinuria
• Ehlers Danlos
• Aniridia
• Congenital glaucoma
• Iris coloboma
• Syphilis
• Weill Marchesani syndrome
• Sulfite oxidase deficiency
• Hyperlysinemia
• Ectopia lentis et pupillae
52
What is sulfite oxidase deficiency?
• Deficient in molybdenum cofactor
• Ectopia lentis, recurrent seizures, hypertonia, deep
set eyes
• Most children die before age 5
53
What protein is affected in Marfans syndrome?
• Fibrillin protein
54
What is the enzyme deficiency in hyperlysinemia?
• Alpha aminoadipic semialdehyde synthase
55
What is the newborn axial length and corneal horizontal diameter?
• Axial length: 15 17 mm
• Corneal horizontal diameter: 9.5 10.5 mm
56
What is the myelinated retinal nerve fiber layer?
● Focal abnormality in myelination
○ Normally, myelination of retinal ganglion cells
starts at lateral geniculate ganglion and stops at
lamina cribrosa
● Typically incidental and asymptomatic
● Lesions usually follow vascular distribution
● Result in scotoma corresponding to region of
myelination
● Can cause pseudopapilledema if it occurs around
optic nerve head
● Can reduce visual acuity due to the following:
1.
Involvement of macula
2.
High myopia
3.
Amblyopia (increased risk refractive
amblyopia)
4.
Nystagmus
57
What tests diagnose myasthenia gravis?
• Tensilon test
• Ice pack test
• Anti MuSK
• Anti ACh receptor abs
• Single fiber EMG
58
What is the differential diagnosis for congenital corneal opacity?
"STUMPED"
1. Sclerocornea
2. Trauma
3. Ulcer
4. Mucopolysaccharidoses
5. Peters anomaly
6. Endothelial (CHED)
7. Dermoid
59
What is the Hirschberg test?
• Qualitative test using corneal light reflex that gives
rough idea of what type of deviation is present
60
Which strabismus surgeries pose the greatest threat to visual acuity if a complication occurs?
• Inferior oblique advancement
• Strengthening of inferior oblique requires
reinsertion more posterior which predisposes
macular to greater danger if scleral perforation
occur
61
What is iris mammillation?
• Nodules the same color as surrounding iris
• Associated with oculodermal melanocytosis, ciliary
body melanoma, and choroidal melanoma
DDx: Lisch nodules, ocular/oculodermal melanocytosis,
malignant melanoma of iris, Cogan Reese syndrome, iris
granulomas
62
What disease is associated with a spontaneous hyphema?
• Juvenile xanthogranuloma
63
What inherited condition is associated with sphenoid dysplasia?
• NF1
64
What are the 3 main patterns of nystagmus in congenital sensory nystagmus (due to poor vision from a variety of causes)?
1. Searching nystagmus, VA worse than 20/200
2. Pendular pattern, most common, VA at least 20/200 in
one eye
3. Jerk nystagmus, VA 20/60 20/100
65
What is Harada Ito procedure?
● Advancement/strengthening of anterior fibers of
superior oblique tendon that are most responsible
for ocular torsion
○ Involves splitting the superior oblique tendon
and displacing anterior fibers to superior border
of lateral rectus incyclotorsion
● Useful for CN 4 palsy with excyclotorsion with
ipsilateral hypertropia
● Surgery corrects excyclotorsion with limited effect
on vertical alignment
66
What is the most common strabismus pattern in craniosynostosis syndrome?
• V pattern exotropia, often accompanied by
significant inferior oblique overaction
67
What are the tertiary actions for the (superior/inferior) recti and the (superior/inferior) obliques?
• ADDuction is tertiary action for superior/inferior
recti
• ABDuction is tertiary action for obliques
68
What is congenital dacryocystocele?
• Result of distal (at the level of the valve of Hasner)
and proximal (at the level of the valve of
Rosenmüller) obstruction of nasolacrimal duct that
causes distention of lacrimal sac
• Kinking of common canaliculus prevents
accumulated secretions
• Most also have cysts of distal NLD seen under
inferior turbinate in nasal cavity
• Present at birth or shortly afterwards
• Bluish swelling just below and nasal to medial
canthus
DDx: capillary hemangioma, encephalocele, dermoid cyst
69
What is the normal IOP in a newborn?
• 10 12 mmHg
70
What is the Bruckner test?
• Shining direct ophthalmoscopy into both eyes to
elicit red reflex OU simultaneously
• Looking for asymmetry of red reflex
• Asymmetric red reflex: lens opacities, strabismus,
anisometropia
• Red reflex dim in one eye, bright in other eye 🡪 brighter eye is the abnormal eye
• Foveation of ophthalmoscope filament dims red
reflex
71
What is the Krimsky test?
• Prisms to quantify decentration of corneal reflex,
placed over the fixing eye
• Useful if there is poor fixation in one eye (due to
dense amblyopia, low vision, blindness) to allow for
cover uncover testing and strabismus measurement
72
What is Marcus Gunn jaw wink?
•“Congenital Trigemino oculomotor synkinesis”
• Eyelid is variably ptotic and elevates with jaw
movement
• Aberrant connection between CNV3 (external
pterygoid muscle) and CN3 (superior branch)
• Wink phenomenon elicited with thrusting jaw to
contralateral side, jaw protrusion, sucking, chewing,
smiling (i.e. bottle feeding)
73
What is the surgical management for CN6 palsy?
• Wait minimum of 6 months for any spontaneous
resolution to occur
1. If some LR function is regained then large
recession of ipsilateral medial rectus along with
lateral rectus resection
2. If total paralysis → vertical muscle transposition
operation
74
What is Jensen procedure?
• A split tendon technique
• Superior, inferior, lateral recti are all split one half
tendon width
• Split is 14mm posterior to insertion
• Suture is placed between adjacent muscle halves
and tied relatively loosely
75
What is the Foster procedure?
• Full tendon technique, entire tendon of superior
and inferior recti are cut from their insertions and
re inserted next to lateral rectus insertion
• Posterior fixation sutures are placed 8 10 mm
posteriorly which enhances abducting forces of the
transposed vertical recti
76
What is Sturge Weber syndrome? What are the findings?
• Leptomeningeal vascular malformation which leads
to cortical/subcortical calcifications
• Sporadic inheritance
• Diffuse choroidal hemangioma (fundus appears
redder/pinker)
• Ipsilateral to port wine stain
• Leads to vision loss due to RPE subretinal
hemorrahge, serous RD, CME, retinal pigment
atrophy
• Stroke like episodes associated with seizures and
migraines (consider if occurring in young child after
minor head trauma), advised to avoid contact sports
• Port wine stain (positively correlates with
probability of CNS involvement)
• Secondary glaucoma (before age 10 is primary angle
abnormality; after age 10 is increased episcleral
venous pressure) ipsilateral to port wine stain
77
What are the interventions to prevent symptomatic superior oblique palsy during treatment of Brown syndrome?
1. Careful handling of intermuscular septum during
tenotomy
2. Simultaneous ipsilateral inferior oblique weakening
3. Sewing in of inert spacer to cut ends of superior
oblique tendon
78
What are the features of orbital rhabdomyosarcoma?
• Proptosis (80 100%)
• Globe displacement (80%)
• Blepharoptosis (30 50%)
• Conjunctival and eyelid swelling (60%)
• Palpable mass (25%)
• Pain (10%)
79
What is congenital motor nystagmus?
• Horizontal nystagmus with good vision
• Typically horizontal on upgaze and downgaze
• ONLY seen in CMN: "paradoxical inversion of OKN
response" right jerk nystagmus with OKN rotation
left will dampen or reverse to become left jerk
nystagmus
80
What is Botulinum toxin type A and how is it used in strabismus?
• BoTox
• Blocks release of ACh at neuromuscular junction
• Lasts 3 or more months when injected into
orbicularis muscle
• Lasts 5 8 weeks when injected into extraocular
muscles
81
What is dystopia canthorum?
• Abnormality whereby inner canthi and lacrimal
puncti are displaced laterally
• Associated with Waardenburg syndrome
82
When is chemodenervation (botox) is indicated for strabismus?
• Small to moderate angle esotropia or exotropia
residual strabismus
• Acute paralytic strabismus
• Active thyroid disease when surgery is
inappropriate, no stabilization of TED
• Supplemental to medial rectus recession in large
angle infantile esotropia
83
When is chemodenervation (botox) is contraindicated for strabismus?
• Large deviations
• A or V patterns
• Dissociated vertical deviations
• Restrictive strabismus
84
What is cyclic esotropia?
• Rare form of strabismus (1 in 4000 strabismus
patients)
• Unpredictable response to different forms of
therapy EXCEPT for muscle surgery which is usually
curative
• Fusion is absent on strabismic days as suppression
often occurs
• “Straight" days, there is binocular function
• Older children who cannot develop suppression, one
may get diplopic symptoms on strabismic days.
• Patching convert cyclic esotropia into constant
manifest esotropia
85
What are the most common extraocular muscles affected in thyroid eye disease, in order of decreasing of frequency?
• Inferior rectus (most common)
• Medial rectus
• Superior rectus
• Lateral rectus
86
What is associated with high myopia and symptomatic strabismus?
• High myopes → elongated globe can herniate
between superior and lateral recti, stretching and
dehiscence of intermuscular septum between these
2 muscles
• Can cause inferior slippage of lateral rectus pulley
• These changes result in progressively worsening
hypotropia and esotropia
• Medial rectus is frequently tight → worsening
esotropia called "heavy eye syndrome“
Rx: prisms and surgery to address lateral rectus muscle
slippage by joining superior and lateral rectus muscles
with loop myopexy to reposition the globe and recession
of medial rectus may also be needed
87
What is optical penalization?
• Involves applying something to sound eye to
potentially augment amblyopia therapy
• Adding plano lens to sound eye with hypermetropic
refractive error on atropine, patient will not be able
to accommodate to focus
• High plus CL (+13.00) applied to sound eye (rarely
done due to risk of infection in essentially
monocular patient)
88
When no other family history of primary congenital glaucoma exists, what is the chance of an affected parent having an affected child?
• 2%
89
What is primary deviation and secondary deviation?
• Primary deviation: deviation measured when normal
eye is fixating
• Secondary deviation: deviation measured when
paretic or restricted eye is fixating
• Secondary deviation is larger than primary deviation
since more innervation signals are required to bring
paretic eye into fixation, results in increased signals
to corresponding yoke muscle (Herring's Law)
90
What is Alagille syndrome?
• Autosomal dominant, JAG1 gene mutation
• Involves liver, heart skeleton, broaden forehead,
pointed chin, butterfly hemivertebrae, mild
developmental delay
• Posterior embryotoxin, hypertelorism, upslanting
palpebral fissures, ectopic pupils, chorioretinal
atrophy, band keratopathy, cataracts, retinal
pigment clumping, axenfeld anomaly, anomalous
optic disc, myopia, strabismus, choroidal folds,
microcornea
91
How does one distinguish between Brown syndrome and inferior rectus restriction?
• Both have deficient elevation on adduction
• Forced duction test: retropulse the globe with
forceps to test oblique muscles; proptose globe with
forceps to test rectus muscles
• Retropulsion stretches the superior oblique tendon,
whereas restriction would be increased in Brown
syndrome
• In inferior rectus restriction, restriction would be
increased with forceps induced proptosis
92
What is Marcus Gunn jaw winking syndrome?
1. Eyelid elevated with mouth OPENING → aberrant
connection between external pterygoid muscle and
levator palpebrae superioris
2. Eyelid elevated with mouth CLOSING → aberrant
connection between internal pterygoid muscle and
levator palpebrae superioris
93
What are the 4 classic features of blepharophimosis syndrome?
1. Blepharophimosis
2. Ptosis
3. Telecanthus
4. Epicanthus inversus: prominent fold of skin arising
from lower eyelid and covering medial canthus
Rx: epicanthus inversus and telecanthus are corrected
before ptosis repair, medial canthus reconstruction
often worsens ptosis
94
What are earliest signs of malignant hyperthermia?
• Elevation of end tidal carbon dioxide concentration
and tachycardia
• Late signs: elevated temp, acid base disorders, renal
failure, heart failure
95
What is ocular and orbital hypertelorism?
• Ocular hypertelorism: excessive interpupillary
distance, implies orbital hypertelorism
• Orbital hypertelorism: excessive distance between
medial orbital walls as result of lateralization of
orbits, diagnosis made radiographically
96
What is Mobius syndrome?
• CN 6 and 7 palsies, masked facies, limb
abnormalities (clubbed feet), chest wall defects,
deformed tongue, may have adduction impairment
improved with convergence
97
What are the symptoms of thyroid eye disease in children?
• Very rare, milder than adults
• Common: proptosis, eyelid retraction, lid lag, soft
tissue swelling (preorbital fat pad enlargement)
• Uncommon/rarely (unlike adults): extraocular
muscle fibrosis, optic neuropathy
Rx: medications first then subtotal
thyroidectomy/radioiodine ablation
98
What is Lowe syndrome?
• Very rare, X linked
• Reduction of phosphatidylinositol bisphosphate 5
phosphatase activity
• Dense cataracts in ALL patients, glaucoma in 50%,
corneal/conjunctival keloids
• Severe hypotonia, kidney problems, aggressive
behavior (>75%), mild intellectual disability (10%)
99
How does one diagnose Wilson's disease (hepatolenticular degeneration)?
• Serum copper and ceruloplasmin
• Kayser Fleischer ring (late finding)
100
What is congenital iris ectropion syndrome?
• Combination of unilateral congenital iris ectropion,
high iris insertion, smooth iris surface, glaucoma
• Associated with NF, primary facial hemihypertrophy,
Rieger anomaly, Prader Willi syndrome
101
What is the order of surgery for thyroid eye disease?
1. orbital decompression
2. strabismus surgery
3. eyelid surgery
102
What is Sherrington's law?
• Law of reciprocal innervation, contraction of given
muscle (medial rectus) accompanied by decrease in
contraction of its antagonist (lateral rectus)
• Violated in Duane's syndrome
103
What is an example that violates Herring's law?
• Dissociated vertical deviation
104
What is central and peripheral fusion?
• Central fusion: area near fovea has small receptive
fields, therefore, objects need to be very similar in
terms of size and shape to be fused properly
• Peripheral fusion: peripheral retina has large
receptive field, thus objects can be more dissimilar
in size and shape and still be fused
105
What is vernal keratoconjunctivitis and its findings?
• Allergic children, occurs within 1st two decades of
life mostly in spring or fall
• Giant papillary conjunctivitis (>1 mm)
• Horner Trantas dots: jelly like limbal nodules =
degenerated eosinophils
• Shield ulcer, epi defect upper half of cornea
106
What are Herbert's pits?
• Small gaps in pannus as a result of healed limbal
follicles
• Seen in trachoma
107
What is a Kestenbaum Anderson procedure?
• Used for correcting head turns associated with
nystagmus
• Shift null zone closer to primary position
• Surgically rotate eye toward the head turn or away
from null zone
• Total amount of surgery for each eye is equal
108
What is foreign body granuloma?
• After strabismus surgery, typically over muscles
reattachment site
• Localized, elevated, hyperemic, tender mass
• More common in the past when sutures were made
from gut
Rx: topical steroids; if persistent, surgical excision
109
What is pyogenic granuloma?
• Occurs after pterygium removal or strabismus
surgery, over muscles reattachment site
• Reactive hemangioma, contains fibroblasts and
proliferating capillaries
• “Spoke wheel" vascular pattern on histology
• Onset 3 4 weeks after surgery
• Very red
Rx: topical or intralesional steroids; if persistent,
removed with cautery and frequent post op steroids
110
Downbeat nystagmus is associated with what lesion/location?
• Cervicomedullary junction (Arnold Chiari), cerebellar
flocculus
• In Arnold Chiari malformation, defect of base of
skull and upper spinal area
• Downward displacement of cerebellar tonsils
through foramen magnum
111
See saw nystagmus is associated with what lesion/location?
• Parasellar area (craniopharyngioma), midbrain
112
Opsoclonus nystagmus is associated with what lesion/location?
• Neuroblastoma (from adrenals)
113
Periodic alternating nystagmus is associated with what lesion/location?
• Cervicomedullary junction, cerebellar nodules
114
Upbeat nystagmus is associated with what lesion/location?
• Cerebellum, medulla, midbrain
115
Spasmus nutans nystagmus is associated with what lesion/location?
• Parasellar/hypothalamic tumors
116
What is superior oblique myokymia?
• Monocular oscillopsia with torsional movement of
involved eye otherwise neurotically normal
Rx: carbamazepine, phenytoin, topical timolol, surgery
with superior oblique tenectomy + inferior oblique
weakening
117
What is latent nystagmus?
• Horizontal jerk nystagmus only when either eye is
occluded
• Fast phase is toward eye that is NOT occluded
• VA is good when both eyes open, worsens when
either eye is covered
• Common in congenital esotropia and dissociated
vertical deviation
• Nystagmus: exponential decrease in slow phase
velocity (opposite of congenital motor nystagmus)
118
What is the risk of aphakic glaucoma after surgery for congenital cataracts?
• Varies from 15 50%
• Typically occurs several years after surgery
• More frequently when cataract surgery was during
infancy
• Risk is highest in children with microcornea
119
What are the findings of Weill Marchesani syndrome?
• High myopia, Brachydactyly, Short stature,
Microspherophakia , Ectopia lentis
• Mutation of ADAMTS10
• Risk of small loose lens moving anteriorly and
causing pupillary block glaucoma
Rx: prophylactic LPI, cycloplegic during acute attack of
pupillary block will allow the lens to move back
posteriorly
120
Inferior rectus resection can cause what type of eyelid change?
• Lower lid elevation
• Opposite for inferior rectus recession
121
What is the inheritance of hereditary cataracts?
• Autosomal dominant, always bilateral
122
When should unilateral congenital cataracts be removed?
• Before 6 weeks of age
123
When should bilateral congenital cataracts be removed?
• Before 10 weeks of age
124
What is Alport syndrome?
• Mutations in basement membrane (type 4 collagen)
COL4A5 gene
• X linked (85%)
• Blood in urine, hearing loss, eye abnormalities:
retinopathy (dot and fleck) and lenticonus (anterior
lenticonus = oil droplet, spherophakia, cataracts)
125
What is Usher syndrome?
• Congenital sensorineural hearing loss and retinitis
pigmentosa
126
What is Saethre Chotzen syndrome?
• Mild condition type of craniosynostosis
• Mutation in TWIST gene
• Plagiocephaly, ptosis, mild brachydactyly, mild
syndactyly, lateral deviation of big toes
127
What is Crouzon syndrome?
• Autosomal dominant
• Craniosynostosis (fusion of both coronal sutures
leading to "tower skull”)
• Normal intelligence
• Findings limited to skull, does NOT have
hand/feet/limb deformities
128
What is Apert’s syndrome?
• Autosomal dominant
• Syndactyly of hands and feet (dominant feature)
• Internal organ malformation, abnormally fused skull
sutures, intelligence often affected
129
What is Pfeiffer syndrome?
• Autosomal dominant, craniosynostosis (cloverleaf
shaped skull), syndactyly of hands and feet short,
broad thumbs and toes
130
What is dorsal midbrain syndrome (Parinaud syndrome)?
● Paralysis of upgaze defective (voluntary)
● Convergence pupillary light near dissociation
● Convergence retraction nystagmus with downward
rotating OKN
● Eyelid retraction ("Collier's sign")
● Most common causes:
○ Children → pinealoma, congenital aqueduct
stenosis
○ Young adult women → multiple sclerosis
○ Elderly → midbrain stroke
131
What is the treatment for persistent NLDO past 12 months of age?
• Probing, 90% success rate
• If epiphora persists then repeat probing, intubation,
inferior turbinate infracture
• Last resort DCR
132
What is an example of Pierre Robin sequence?
• Frequent finding in Stickler syndrome
133
What is dissociated vertical deviation (DVD)?
• Present in more than half of congenital esotropia
• DVD usually occurs after 2 years of age and occurs
regardless of whether original horizontal deviation
was surgically corrected
• Not true hypertropia, violates Hering's law
• No corresponding downward movement of opposite
eye as the hypertropic eye moves downward to
refixate
134
What syndromes present with CPEO symptoms?
• Kearns Sayre syndrome
• Oculopharyngeal dystrophy
• Myotonic dystrophy
135
What is chronic progressive external ophthalmoplegia (CPEO)?
• Progressive ptosis
• Ophthalmoplegia mitochondrial disorder mtDNA
point deletion
• Generalized muscle weakness
• Muscle biopsy = ragged red fibers
136
What is Kearns Sayre syndrome?
• CPEO + pigmentary retinopathy
• Mitochondrial disease
• Cardiac evaluation essential to rule out heart block
• Associated with cardiomyopathy and cardiac
conduction abnormalities
137
What is oculopharyngeal dystrophy?
• Autosomal dominant, seen in French Canadian
ancestry
• Presents later in life 50 60s
• Progressive dysphagia, muscle weakness, ptosis,
CPEO
138
What is ectopia lentis et pupillae?
• Bilateral, lens subluxation opposite direction of
eccentric pupils
• Most commonly autosomal recessive
• Poor dilation, persistent pupillary membranes, TIDs,
early cataract, glaucoma, high myopia, retinal
detachment
139
What is DeMorsier syndrome (septo optic dysplasia)?
• Congenital, marked midline brain development
abnormalities
• Unilateral/bilateral optic nerve hypoplasia
• Vision can range from near normal to severely
impaired
• Nystagmus frequently present, develops around 1 4
months of age when pathways required for normal
fixation typically mature
• Fundus exam will show optic nerve hypoplasia
• Require MRI and Endocrine referral for hormone
deficiency (GH)
140
What is achromatopsia?
• Rod monochromatism
• Autosomal recessive
• Congenital absence of cone cells
• Poor central vision, no color, nystagmus
141
What is Leber's congenital amaurosis?
• Autosomal recessive
• Disorder of rod and cones
• Severe form of retinitis pigmentosa
• Poor vision, pupils sluggish
• Retinal exam normal in early life, then becomes
similar to retinitis pigmentosa (bone spicules, optic
nerve pallor, attenuated vessels, etc)
142
What is cortical visual impairment?
• Poor vision, pathology occurring somewhere from
lateral geniculate nucleus to primary visual cortex in
occipital lobe
• Causes: periventricular leukomalacia, stroke, CNS
malformations, utero infections
• Usually normal fundus and ERGs
143
What is the most common cause of amblyopia in congenital ptosis?
• Anisometropia amblyopia
• NOT occlusion amblyopia unless ptosis is markedly
severe, even in severe cases, patient compensates
with chin up position
• Astigmatism persists even after ptosis is repaired
• Spectacle correction and occlusion therapy must be
maintained after ptosis surgery
144
What is "Hang back" technique?
• Recession technique used whereby muscle is
suspended to the stump of the original insertion
with nonabsorbable suture
• Useful for patients with thin sclera (high myopes)
where posterior suture pass risks perforation
145
What is isometropic amblyopia or (bilateral refractive
• Children with large amount of uncorrected
hypermetropia, myopia, astigmatism, or
combination in both eyes
• Mechanism: pattern vision deprivation in both eyes
Treatment: refractive correction alone because bilateral
process
146
What is Monofixation syndrome?
• Certain sensory state in strabismus
• Peripheral fusion but without bimacular fusion due
to macular scotoma
• Typically have stereoacuity in the range of 200 3000
sec of arc
• Can be diagnosed with Worth 4 dot test
• When flashlight at 10 feet, light projects on central 1
degree when viewed at this distance, will only see 2
or 3 lights (non fusion response due absence of
bimacular fusion)
• When flashlight at 2 feet, light projects on
peripheral retina, will see 4 lights (fusion response)
at near since peripheral fusion present
147
What is Neurofibromatosis type 2?
• Autosomal dominant, mutations in NF2 gene,
chromosome 22 gene produces protein merlin (aka
schwannomin) acts as tumor suppressor gene
• Associated with bilateral vestibular schwannomas
(hearing loss and tinnitus), intracranial and spinal
meningiomas and schwannomas of other cranial
nerves
• Most common ocular pathology: cataracts (60 80%),
posterior subcapsular and wedge cortical
• Less common ocular findings: retinal hamartomas,
RPE hamartomas, optic nerve sheath meningiomas,
epiretinal membranes
148
What is the order of magnitude of different fusional amplitudes in an average person?
• Convergence of fusional amplitudes > divergence
fusional amplitudes > vertical fusional amplitudes
• Distance fixation at 6 meters:
1. Convergence fusional amplitudes 14 prism
diopters
2. Divergence fusional amplitudes 6 prism diopters
3. Vertical fusional amplitudes 2.5 prism diopters
149
What is red glass test?
• One way to test for anomalous retinal
correspondence
• Reason for test is to avoid post op diplopia surprises
• First measure patient’s deviation objectively with
prism
• Then red glass placed over non deviating eye while
fixates on white light
• If sees one light, suppression is present
• Sees lights superimposed (pink), harmonious ARC
• Sees 2 lights but separation, unharmonious ARC
150
What is the treatment of primary congenital glaucoma?
• 1st goniotomy or trabeculotomy
• If failed 2nd goniotomy or trabeculotomy
• Trabeculectomy (+/ (+/--) MMC or drainage implant
• Success rate of 1 or 2 angle surgeries for PCG in
infants presenting from 3 months to 1 year is
approximately 80%
151
What is the change in a child's refraction from birth?
• Humans begin life hyperopic due to relative
steepness of cornea and short axial length at birth
• Hyperopia continues to increase until it peaks
around 6 8 years of age
• Then myopic shift towards emmetropia process in
which refractive power of eye is adjusted during
childhood = emmetropization
152
What is the definition of amblyopia?
• Visual acuity 2 lines worse than normal eye
153
Manipulation of which extraocular muscle is most likely to result in oculocardiac reflex?
• Medial rectus
154
What is an OKN drum?
• Elicit optokinetic reflex whereby patient has quick
refixation movement in opposite direction of
rotating bars if vertical reflex occurs 🡪 VA 20/400 or
better
155
What is optic nerve hypoplasia in children associated with?
● In general, most commonly maternal ingestion of
phenytoin, LSD, quinine, alcohol
● Superior segmental optic nerve hypoplasia most
commonly associated with maternal diabetes, also
occurs spontaneously
○ Dense inferior VF defects
156
What is Kawasaki disease?
● Characteristic findings: Fissured lips, bilateral
conjunctival injection, inflamed tongue papillae
("strawberry
● Systemic vasculitis affecting medium sized vessels,
including coronary arteries
○ Risk of death from coronary artery aneurysms
→ obtain echocardiogram
● Anterior uveitis is self limited and does not require
treatment
Rx: aspirin, IVIg
Avoid systemic steroids → risk of worsening rate of
coronary artery aneurysm
157
How to perform strabismus surgeries in thyroid associated ophthalmopathy?
• NEVER involve resecting antagonist to restricted
muscle
• In general, NEVER perform resection for TAO
strabismus
158
How is the light reflex related to estimation of deviation?
• 1 mm of corneal light reflex equals approximately 7
degrees, 15 PD of deviation
• Corneal light reflex at pupillary margin = 2 mm off =
15 degrees off = 30 PD off
• Corneal light reflex at mid iris = 4 mm off = 30
degrees off = 60 PD off
• Corneal light reflex at limbus = 6 mm off = 45
degrees off = 90 PD off
159
What are the findings of sarcoidosis in children?
• Keep in mind ACE level in normal children is typically
higher compared to adults
• <5 yr old: associated with rash and arthritis more
commonly whereas lung involvement less frequent
• Same as adults: anterior uveitis more common than
panuveitis
160
What is optic nerve hypoplasia associated with and its findings?
• Double ring sign
• De Morsier syndrome = septo optic dysplasia, ONH,
absence of septum pellucidum, agenesis of corpus
callosum, hypopituitarism 🡪 GH deficiency
• ONH can occur with hypopituitarism independent of
presence or absence of septum pellucidum
161
What is Stargardt disease?
• AKA fundus flavimaculatus, most common of
juvenile macular dystrophy (onset typically early
teenage years)
• VA 20/50 20/200 range
• Bull's eye maculopathy
• Loss of foveal reflex
• Polymorphic sheen/beaten bronze appearance
• Yellow deposits = pisciform flecks in paramacular
area, relative sparing of peripapillary retina
"Dark choroid" = retinal vessels are highlighted against a
hypofluorescent choroid in early phase of FA due to
blockage from diffusely distributed lipofuscin
162
What is microcornea?
•<9 mm horizontal diameter in newborn
• <10 mm horizontal diameter at 2 years of age
• Seen in PHPV, colobomas, nanophthalmos
• Clear cornea of normal thickness
• Typically hyperopia because corneas are flat →
more prone to angle closure glaucoma
• Patients without angle closure glaucoma → 20%
develop open angle glaucoma
163
What is Aicardi syndrome?
• X linked dominant
• Oval chorioretinal lacunae (lethal in male), agenesis
of corpus callosum infantile spasms (before age 5
months)
• Colobomas
• Microphthalmos
• Developmental delay
164
What is Batten's disease?
• Optic atrophy, macular pigmentary deposits,
low/absent ERG
• Neuronal ceroid lipofuscinosis results in seizure
165
What is a Duane's syndrome?
• Nucleus of CN 6 absent
• Aberrant branch of CN 3 that innervates lateral
rectus associated with Goldenhar syndrome
• Caused by defect in development during 4th week
of gestation
166
What are the quantitative VA measurements in preverbal infants and toddlers?
• Preferential looking (Teller acuity cards II or Cardiff
acuity test)
• Visually evoked potential
167
What are the methods to measure VA in 2 5 year old?
• Allen cards
• HOTV cards
• E game
168
What two diseases have similar retinal findings to retinopathy of prematurity?
• Incontinentia pigmenti/Bloch Sulzberger syndrome
• Familial exudative vitreoretinopathy (FEVR)
FEVR: genetic (autosomal dominant), affects growth
and development of blood vessels in retina → vitreous
traction, peripheral exudation, peripheral retinal
breaks, incomplete peripheral retinal vascularization.
PREMATURITY NOT A RISK FACTOR.
IP/Bloch Sulzberger syndrome: X linked DOMINANT.
Affects eyes, skin, and brain. Lethal in males. Bullae on
extremities and hyperpigmented macules on trunk.
Microcephaly, seizures, intellectual disability.
Incomplete peripheral vascularization leading to
neovascular membranes leading to retinal
detachments
169
What are the 2 X linked dominant conditions?
• Incontinentia pigmenti
• Aicardi syndrome
170
What is posterior lenticonus?
• Outpouching of central posterior capsule due to
thinning in that area
• "Oil droplet" appearance on retroillumination
171
What syndrome is associated with anterior lenticonus?
• Associated with Alport syndrome
Alport syndrome: glomerulonephritis, high tone
deafness, dot and fleck retinopathy (>80%)
172
What is periodic alternating nystagmus (PAN)?
• Congenital or acquired
• Jerk nystagmus lasts for 60 90 seconds in one
direction, then period of no nystagmus 10 20
seconds, then jerk nystagmus in opposite direction
• Alternating head turning due to state of vestibular
overactivity
• Congenital PAN oculocutaneous albinism
• Acquired PAN lesion of cervicomedullary junction,
multiple sclerosis, Chiari malformation, cerebellar
degeneration
173
What is the VA of a newborn at birth?
• 20/400
• At birth, fovea does not have density of cone that is
found in adult retina, reaches same density of cones
after 1 year of life
174
The following types of nystagmus are associated with which corresponding systemic conditions? 1. Downbeat, 2. See saw, 3. Opsoclonus, 4. Periodic alternating nystagmus, 5. Upbeat
1. Downbeat: cervicomedullary junction (Chiari type 1), cerebellar
2. See saw: parasellar, midbrain
3. Opsoclonus: neuroblastoma
4. Periodic alternating nystagmus: cervicomedullary junction, cerebellar
5. Upbeat: midbrain, medulla, cerebellum
175
What is Alexander's law?
• Nystagmus more pronounced when gaze is directed
toward side of fast beating component
176
What syndrome is associated with upper eyelid coloboma?
• Goldenhar syndrome
• Additional findings: limbal dermoids, preauricular
skin tags, vertebral abnormalities, congenital heart
disease, CNS abnormalities
177
What syndrome is associated with coloboma of lower eyelid?
• Treacher Collins syndrome
178
What is the medical treatment of accommodative esotropia?
• Echothiophate iodide
• Suppress convergence in patients with high AC/A
ratio
• Stimulates ciliary muscle, reducing central demand
for accommodation which in turn reduces excessive
convergence of eyes
• Causes prolonged paralysis with depolarizing
general anesthetic like succinylcholine
• Iris cyst formation prevented by co administration
of phenylephrine 2.5%
179
What is the difference between dermoid cyst and epidermoid cyst?
• Dermoid cyst wall has adnexal structures (sebaceous
glands or sweat glands, hair follicles)
• Epidermoid cysts do not have adnexal structures
180
What is Megalocornea?
• X linked condition
• Carrier mothers have slightly enlarged corneal
diameters
• 90% are male
• Not associated with increased IOP
• AC angle can be seen directly without gonioscope
Associated with: lens subluxation, iris hypoplasia radial
(transillumination defects), ectopic pupil
181
What are the common features of congenital (infantile) esotropia?
● Onset before 6 months of age
● Cross fixation
● Dissociated vertical deviation
● Latent nystagmus
● Large angle of deviation
● Similar angles at distance and near
182
What is the PD difference between up and down gaze in "A" and "V" pattern deviations?
•"A" pattern at least 10 PD
• "V" pattern at least 15 PD
183
What are the stages of ROP?
• Stage 0: immature vascularization (no ROP)
• Stage 1: demarcation line (no height)
• Stage 2: ridge with or without small tufts of
fibrovascular proliferation (has height)
• Stage 3: ridge with extraretinal fibrovascular
proliferation
• Stage 4: subtotal retinal detachment
• Stage 5: total RD
184
What are the different ROP zones?
• Zone 1: posterior pole, circle centered on optic disc
• Zone 2: edge of zone 1 to point tangential to nasal
oral serrate and around area near temporal equator
• Zone 3: residual crescent anterior to zone 2
185
What is dominant optic atrophy (Kjer optic atrophy)?
• Most common hereditary optic atrophy
• Autosomal dominant
• Mutation in OPA1 gene
• Blue yellow dyschromatopsia (tritan)
• Temporal pallor with area of "triangular excavation“
• Slow loss of vision
• Absence of nystagmus
• Mild to moderate vision loss (20/40 to 20/200)
186
What is autosomal recessive optic atrophy?
• Begins in early childhood (before 5 years old)
• More severe vision loss
• Nystagmus 50%
187
What is Behr optic atrophy?
• Hereditary optic atrophy
• Onset of vision loss in early childhood (< 10 years
old)
• Associated with ataxia, intellectual disability, urinary
incontinence
188
What distinguishes preseptal cellulitis from orbital cellulitis?
1. Lack of restriction of ocular movements
2. Lack of proptosis
3. Lack of ocular congestion (chemosis, injection,
increased IOP)
189
What is the Knapp procedure?
• Transpose medial and lateral recti muscles to
superior rectus
• Indications for this surgery: monocular elevation
deficiency with large hypotropia on primary gaze
and chin up head position
190
What is the arterial blood supply for the extraocular muscles?
• Inferior and superior recti carry bulk of blood supply
to anterior segment
• Each rectus muscle has 1 3 anterior ciliary arteries
which are branches of muscular arteries which
themselves are branches of ophthalmic artery
• Lateral muscular branch supplies lateral rectus,
superior rectus, superior oblique, levator palpebrae
muscles
• Medial muscular branch supplies inferior rectus,
inferior oblique
• Infraorbital artery partially supplies inferior oblique
and inferior rectus muscles
191
What is methotrexate used for and what are the common side effects?
• Commonly used for JIA
• Most common side effect is GI upset
• Other side effects: ulcerative stomatitis,
hepatotoxicity, and pneumonitis
192
What genes are associated with different types of glaucoma?
• Primary congenital glaucoma: CYP1B1, GLC3A,
GLC3B, GLC3C
• Juvenile onset glaucoma: GLC1A (aka MYOC)
• Pseudoexfoliation glaucoma: LOXL1
• Normal tension glaucoma: OPTN
193
What effect can be seen with eyelids after inferior rectus resection?
• Upward advancement of lower eyelid
194
What effect can be seen with eyelids after inferior rectus recession?
• Pulling lower eyelid down
195
What is facultative suppression?
• Intermittent misalignment
• Suppression when eyes are deviated (no double
vision)
• Suppression absent when eyes are aligned
196
What is constant suppression?
• Suppression present when eyes aligned or deviated
(present all the
i.e. amblyopia
197
What is central suppression?
• Prevents 2 different images on the two fovea from
reaching the brain
• E liminates visual confusion
198
What is peripheral suppression?
• Suppression of the image falling on the peripheral
retina in the deviated eye
• This is for elimination of diplopia
• Only develops in immature visual system
199
What is the normal cup to disc ratio of a newborn?
• Less than 0.3
• Usually less than 0.2 difference between cup to disc
ratios between two eyes
200
What are the symptoms of neonatal chlamydia conjunctivitis?
• Papillary reaction (NOT follicular reaction as seen in
adults) due to immaturity of neonates lymphoid
system
• Follicular reaction occurs after 1 month of age when
immune system is more mature.
• Present at around 1 week of life
• Risk of pneumonitis and otitis media
Rx: oral macrolides
201
What is are the ocular findings associated with aniridia?
• Bilateral hypoplastic irides, foveal hypoplasia, poor
vision, nystagmus, photophobia (more light entering
eye)
• Glaucoma
• Optic nerve hypoplasia
• Cataracts
• Corneal scarring later secondary to limbal stem cell
deficiency
PAX6 gene mutations
Wilms tumor (only in sporadic)
202
What are Allen cards?
• A method to test visual acuity, shows pictures
instead of letters
203
What is a HOTV test?
• A visual acuity test
• Projecting the letters HOTV then point to the same
letter on a card
204
What is a Teller card?
• Visual testing for preverbal child
• One side blank while other side has series of vertical
black and white stripes
• Small peephole in the middle through which
examiner looks to observe which direction child
gazes
205
What is the Vogt triad in tuberous sclerosis?
1. Seizures (due to cortical tubers/calcified astrocytic
hamartomas)
2. Intellectual disability
3. Facial angiofibromas (sebaceous adenomas)
• Associated with retinal astrocytomas, ash leaf spot,
subungual/periungual fibromas
206
What are the classic ocular findings of Axenfeld Rieger syndrome?
1. Posterior embryotoxon
2. Iris strands
3. Corectopia with possible hole formation
• Autosomal dominant mutation of PITX2 and FOXC1
207
What is Kasabach Merritt syndrome?
• Sequestration of platelets within a large vascular
lesion, such as a hemangioma, leading to
thrombocytopenia
• High mortality rate
208
What findings are there in Neurofibromatosis 2?
• Bilateral acoustic neuromas
• Multiple meningiomas
• Posterior sub capsular or or wedge shaped cortical
cataracts
• Lisch nodules of the iris can occur in NF2 but are
infrequent
The gene for NF2 is located on chromosome 22
209
What findings are there in Neurofibromatosis 1?
• Iris/Lisch nodules
• Cafe au lait spots
• Optic glioma
• Osseous defects
• Sphenoid wing dysplasia
The gene for NF1 is located on chromosome 17
Also called Von Recklinghausen disease
210
What diseases are associated with congenital iris ectropion?
• Neurofibromatosis 1
• Prader Willi
• Facial hemihypertrophy
211
What effect does exotropia have on angle kappa?
• Positive angle kappa (angle between visual axis and
pupillary axis)
212
What is a posterior embryotoxon?
• A thickening and anterior displacement of the
Schwalbe line
• May be an isolated finding in 15% of patients
• Other associated conditions: Axenfeld Reiger
syndrome, arteriohepatic dysplasia (Alagille
syndrome), velocardiofacial syndrome
213
What is Chediak Higashi syndrome?
• Autosomal recessive mutation in lysosomal
trafficking regulator protein that renders inadequate
phagocytosis
• Recurrent pyogenic infection
• Patients rarely survive past 10 years of age, die from
infection
• Albinism
214
What is Hermansky Pudlak syndrome?
• Autosomal recessive
• Low platelets
• Interstitial lung disease
• Granulomatous colitis
• Albinism
• Common among Swiss or Puerto Rican patients
215
What are the ocular manifestations of congenital rubella?
• Pigmentary retinopathy
• Cataract
• Glaucoma
• Poor visual acuity secondary to cataracts and
microphthalmia, rarely CNV
• Deafness
• Strabismus
216
What are the blood supply to the extraocular muscles?
• Medial muscular branch of ophthalmic artery (larger
of the 2): medial rectus, inferior rectus and inferior
oblique
• Lateral muscular branch of ophthalmic artery:
lateral rectus, superior rectus, superior oblique, and
levator
• Lacrimal artery: lateral rectus
• Infraorbital artery: inferior oblique and inferior
rectus
217
What are the causes of fetal intracranial calcifications?
• Congenital toxoplasma gonfi: diffuse intracranial
calcifications, hosts and reservoirs are cats
• CMV: intracranial calcifications and hydrocephalus
• Lymphocytic choriomeningitis virus (LCMV): host
and reservoir are rats. Occurs earlier in pregnancy,
from food contaminated w/rodent excrement or
bite of infected rodent or airborne. Macrocephaly,
hydrocephalus, periventricular calcifications
w/seizures, chorioretinal scars, optic atrophy,
nystagmus, strabismus
• Cysticercosis: leukocoria, hydrocephalus
• Tuberous sclerosis: intracranial calcified astrocytic
hamartomas
• Sturge Weber syndrome: ipsilateral leptomeningeal
intracerebral calcifications, seizures, neurologic
deficits, cognitive impairment
218
What are the risk factors for retinopathy of prematurity in premature babies?
• Blood transfusions
• Poor postnatal weight gain
• Sepsis
219
What are the different types of neonatal conjunctivitis?
• Within 24 hours of birth: chemical
• 3 4 days after birth: gonococcal
• 1 week after birth: chlamydia
• 2 weeks after birth: HSV
220
What association is there with sporadic aniridia?
• WAGR complex: Wilms tumor, aniridia,
genitourinary malformations, mental retardation
221
What are the findings of Goldenhar syndrome?
• Duane syndrome
• Microphthalmia
• Eyelid colobomas
• Iris abnormalities
• Corneal hypoesthesia
• Epibulbar (limbal) dermoids
• Dermolipomas
222
What is an A pattern deviation?
• Difference in measurement between upgaze and
downgaze is at least 10 PD
• Measurements in upgaze and downgaze are
recorded 25 degrees from primary position
223
What is a V pattern deviation?
• Difference in measurement between upgaze and
downgaze is at least 15 PD
• Measurements in upgaze and downgaze are
recorded 25 degrees from primary position
224
What are the milestones for visual development?
• 6 8 weeks: maintain visual fixation and react
w/facial expressions
• 2 3 months: interested in bright objects
• 3 4 months: orthotropic; fix and follow to small
objects; nasal bias for smooth pursuit resolved
225
What findings are associated with morning glory disc anomaly?
• Retinal detachment
• Basal encephalocele
• Midface anomalies
• Moyamoya disease (constriction of internal carotid
arteries, recurrent strokes)
• PHACE (posterior fossa malformations,
hemangioma, arterial lesions, cardiac, eye
anomalies)
226
Where do neuroblastomas originate from?
• One of most common childhood cancers and most
frequent source of childhood orbital mets
• Originates either from adrenal gland or sympathetic
ganglion chain in retroperitoneum or mediastinum
• Interrupting of papillary sympathetic innervation
can cause Horner syndrome
227
What are the findings in congenital CMV and congenital toxoplasmosis
• Intraventricular calcifications
• Microcephaly
• Retinitis
228
What are the findings in Weill Marchesani syndrome?
• Short status
• Stocky body
• Brachydactyly (short fingers and toes)
• Microspherophakia
229
What is CHARGE syndrome?
• Coloboma
• Heart defects
• choAnal Atresia
• mental Retardation
• Genitourinary abnormalities
• Ear abnormalities
• Associations: iris, optic nerve, chorioretinal
colobomas
230
What is Möbius syndrome?
• Congenital
• Esotropic 50%, exotropia 10% orthophoria 40%
• Lagophthalmos, limb/pectoral abnormalities
• Commonly affected nerves CN6, CN7
• May also affect PPRF or CN6 nucleus
231
What are the ROP screening guidelines?
● 1 week or less
○ Immature vascularization in zone I or posterior zone
II
○ Stage 1 or 2 ROP in zone I
○ Stage 3 ROP in zone II
○ Presence or suspected presence of aggressive
posterior ROP
● 1 2 weeks
○ Immature vascularization in posterior Zone II
○ Regressing ROP in zone I
○ Stage 2 ROP in Zone II
● 2 weeks
○ Immature vascularization in Zone II
○ Regressing ROP in zone II
○ Stage 1 ROP in Zone II
● 2 3 weeks
○ Regressing ROP in zone III
○ Stage 1 or 2 ROP in zone III
232
How far are the rectus muscles located from the limbus?
• Medial rectus 5.5 mm
• Inferior rectus 6.5 mm
• Lateral rectus 6.9 mm
• Superior rectus 7.7 mm
The spiral made from the insertion distances is called the
Spiral of Tillaux
233
What are the 6 cardinal positions?
234
What is the differential diagnosis for congenital corneal opacities?
• Sclerocornea
• Tears in Descemet’s (trauma)
• Ulcer
• Mucopolysaccharidosis/Metabolic
• Peter's anomaly
• Edema: Congenital hereditary endothelial dystrophy
• Dermoid
• STUMPED
235
What is the triad seen in congenital syphilis (Hutchinson’s triad)?
• Interstitial keratitis
• CN VIII deafness
• Hutchinson teeth
236
What are the different subtypes of Duane’s retraction syndrome?
• Type 1: abduction affected
• Type 2: adduction affected
• Type 3: abduction and adduction affected
237
What is the chance of a child getting retinoblastoma if their parent is affected?
238
What is Hering’s law of equal innervation?
• Conjugacy of saccades is due to innate connections
in which eye muscles responsible for each eye’s
movements are innervated equally
239
What is the 4 diopter base out prism test?
• Documents presence of a small macular scotoma in
pt with monofixation syndrome and either micro
strabismus or no manifest deviation
• The prism is placed over non fixating eye, there is no
movement of eye and no convergence movement of
contralateral eye
• Least reliable test to document macular suppression
scotoma
