Peds

Question 1

Galactosemia

Answer 1

Can result from a defect in galactokinase, galactose-1-P transferase, or UDPgalactose-4-epimerase

AR inforn error in metabolism affecting conversion of galactose to glucose

Oil droplet cataracts (memo: Sugar and Oil yumm)

Liver dysfunction, mental deficiency

If untreated fatal

Low galactose diet

Question 2

what are the findings, inheritance, gene and prognosis of dominant optic atrophy?

Answer 2

• temporal pallor with area of “triangular excavation”
• slow vision loss with absence of nystagmus
• AD inheritance
• blue-yellow (ie tritan) dyschromatopsia
• mild to moderate vision loss (20/40-20/200)

Question 3

Axenfeld-Rieger syndrome

Answer 3

AD

PITX2 and FOXC1 (memo: both have Xs..aXenfeld)

50-60% dev glaucoma

Small teeth, redundant periumbilical skin, hypospadias, and pituitary abnormalities

Question 4

How do you fix an exotropia that is worse in upgaze (A pattern)?

Answer 4

MALE (medial to the apex, lateral to the empty space)

Medial rectus to the Apex (displace superior) - in this case resection

lecteral rectus to the empty space (displace inferior) - in this case recession

Question 5

Aniridia

Answer 5

Can be familial or sporadic

PAX6 gene on chromosome 11

Inheritance is AD

Glaucoma, optic nerve hypoplasia, cataracts, pannus, LSCD, foveal hypoplasia

Sporadic form associated with nephroblastoma (wilms tumor)

Question 6

Both brown’s syndrome and IO palsy will present with deficient elevation in adduction

How do you tell them apart (list 5)?

Answer 6

Brown: (opposite points for IO palsy)

1. positive forced duction test (gets stuck on the pully)
2. V pattern (M Browne has a Vaginal)
3. none or minimal SO muscle overaction (the SO muscle inself is fine)
4. no torsion (SO works)
5. negative head tilt test (SO works)

* think about it. In IO palsy because the IO doesn’t work there is often overaction of the SO leading to A pattern, intorsion of the eye and a positive tilt test. In Brown syndrome its the restriction from the trochlea-SO complex

Question 7

what is Alexanders law?

when you do strab surgery for nystagmus where to do shift the eyes towards?

Answer 7

nystagmus is more pronounced when gaze is directed toward the side of the fast-beating component

eyes are rotated towards the head turn (or away from the null point) using the Kestenbaum-anderson procedure

Question 8

Congenital reduced vision with seemingly normal eyes

Answer 8

LORDS

lebers congenital amaurosis
optic nerve hypoplasia, ocular albinism
rod monochromatism
delayed visual maturation cortical blidness

stationary night blindness

Question 9

what is the ddx for ectopia lentis?

Answer 9

W: Weill-Marchesani
A: Aniridia
T: Trauma
C: Congenital glaucoma
H: Hereditary ectopia lentis

H: Homocystenuria and Hyperlysinemia
I: Iris coloboma
M: Marfans

S: Sulfite oxidase defeciency and Syphillis
E: Ehlers-Danlos
E: Ectopia lentis et pupillae

Question 10

Goldenhar syndrome- what is it?

Answer 10

Goldenhar syndrome (aka oculoauriculovertebral syndrome)

limbal dermoids, hemifacial microsomia, ear deformities (including preauricular appendages), upper eyelid colobomas (memo: where we put a “gold” weight), and vertebral antomalies

limbal dermoids are most often inferotepormal (memo: closest to the ears)

limbal dermoids are hamartomatous lesions which can cause astiamatism and ambylopia

Excsision can be difficult becuase they may involve Bowman layer and cornea stroma.

Question 11

What are the Garcia and Harris criteria?

Answer 11

Criteria for “expectant observation with IV abx” for SPA in patients <9 if the following criteria are ABSENT

1. Large SPA
2. nonmedial location
3. presence of frontal sinusitis
4. suspicion of anaerobic subperiosteal infection (eg presence of gas)
5. recurrence of SPA after drainage
6. evidence of chronic sinusitis (eg nasal polyps)
7. acute optic nerve or retinal compromise
8. infection of dental origin (b/c the presence of anaerobes would be anticipated)

* reason for age <9 is b/c the risk of refractory pathogens (eg anaerobes) increases dramatically after this age

Question 12

Commonly tested nystagmus patterns and their lesions:

Downbeat

See-saw

Opsoclonus

PAN

Upbeat

Answer 12

Downbeat: cervicomedullary junction, cerebellar Flocculus

See-Saw: parasellar area (craniopharyngioma), midbrain

Opsoclonus: neuroblastoma (usually from adrenals)

PAN: cervicomedullary junction, cerebellar Nodulus (N for paN)

Upbeat: cerebellum, medulla, midbrain

Question 13

what gene causes congenital glaucoma?

Answer 13

GLC = glaucoma

1/2/3 = open angle/closed angle/congenital

A/B/C = order in which genes were names

so GLC 3A/3B/3C are the congenital ones

Question 14

order of EOMs most commonly involved in TED?

Answer 14

inferior, medial, superior, then lateral

Question 15

Homocystinuria: genetics, serum levels, ocular and systemic findings, treatment

Answer 15

AR

Inborn error of methionine metabolism

Elevated serum methionine and homocystine

Lens dislocation (30% infancy, 80% by age 15)

Abnormal brittle zonules (can be broken)

Diet low in methionine and high in cysteina can help

Seizures, mental retardation, osteoporosis

Question 16

Latent nystagmus

• what is the waveform
• what direction is the fast phase
• commonly seen in what conditions?
• what way would the head turn when the right eye is occluded?

Answer 16

Waveform: exponential DECREASE in the slow phase velocity

Direction of fast phase is toward teh eye that is NOT occluded

Congenital esotropia and DVD

When the right eye is occluded the nystagmus is beating to the left. Therefore the child would want to look to the RIGHT with a turn of his head to the LEFT.

Question 17

what syndrome can be associated with capillary hemangiomas?

Answer 17

PHACES

Posterior fossa malformations

Hemangiomas

Arterial abnormalities

Cardiac defects

Eye abnormalities

Sternal or ventral defects

Question 18

What are the findings in Aicardi syndrome?

Answer 18

X-linked dominant

chorioretinal lacunae, agenesis of the corpus callosum, and infantile spasms

can also have colobomas and microphthalmos

Question 19

what are the ocular condiitons that occur with aniridia?

Answer 19

chronic angle closure glaucoma

progressive corneal opacification (due to LSCD)

nystagmus

foveal hypoplasia

cataracts (especially small anterior polar cataracts)

Question 20

What are the ocular manifestations of blau syndrome? What is on the ddx with this condition? what is the inheritance?

Answer 20

Blau syndrome (aka familial juvenile systemic granulomatosis)

• polyarthritis, skin rash, band K, anterior uveitis, multifocal choroiditis, cataract, glaucoma, ischemic optic neruopathy, CME, NV with VH
• AD, chromo 16
• ddx: JIA (no multifocal choroiditis) and sarcoid (unlike blau can have pulm involement and adenopathy)

Question 22

Toxoplasmosis

TORCHES

Answer 22

TORCHES

TOxoplasmosis, Rubella, Cmv, Herpes simplex, Syphilis

Caused by a protozoan in cat feces - may remain active for up to 1 year

Maternal infection early in pregnancy results in a greater risk of transmission to the fetus

Retinochoroiditid which can reactive later in life with severe vitritis (“headlight through fog”)

Question 23

Definition of microcornea (size) in newborns and age 2 (which is the same as adults)?

Typical refraction in microcornea? Predisposed to what?

Answer 23

newborn: <9mm

age 2/adults: <10 mm

hyperopia

angle closure glaucoma

open angle glaucoma (20%)

Question 24

Albinism

Answer 24

iris TID, decreased fundus pigmentation, foveal hypoplasia, sensory nystagmus

Chediak-Higashi: neutropenia, lymphocytosis, anemia and thrombocytopenia -> recurrent infections

Hermansky-Pudlak syndrome: more common in puerto ricans -> abnormal PLT and susceptibility to bleeding and bruising

Question 25

What EOM has the longest tendon, second longest, shortest? How long is the active muscular portions of the EOMS?

Answer 25

Tendons: SO **26 mm** Levator **14-20 mm** IO **1 mm** Active portions: - MR, IR, LR, SR **40 mm** **-** IO **37 mm** - SO **32 mm**

Question 26

Peter's anomaly

Answer 26

Dev problem of faulty migration of neural crest cells Both lens and iris may remain adherent to the central cornea Descemet membrane and layers of the posterior cornea may be absent Peripheral cornea is characterisitically clear In many cases the cornea opacity will decrease over time

Question 27

Lowe syndrome

Answer 27

X-linked recessive Rental tubular acidosis, bilateral congenital cataracts, glaucoma, mental retardation, muscle hypotonia, failure to thrive

Question 28

Dacryocystocele: ddx, etiology

Answer 28

Ddx: hemangioma, encephalocele, dermoid cyst (latter 2 usually ABOVE the medial canthal tendon) caused by a membranous blockage over the valve of Hasner leading to lacrimal sac distention At birth often contains trapped amniotic fluid Associated nasal mucocles seens with this condition can result in significant respiratory compromise

Question 29

ddx subluxed lens

Answer 29

trauma ectopia lentis ectopia lentis et pupillae Marfan's homocystinuria Weill-Marchesani aniridia cataract high myopia megalocornea uveitis syphilis Ehlers-Danlos Riegers dwarfism pseudoxanthoma elasticum hyperlisinemia sulfite oxite deficiency Treacher Collins Apert congenital glaucoma

Question 30

Explain how to do the parks-bielschowsky 3 step test? Give the example of a right superior oblique palsy and how this would look for each step of the test.

Answer 30

1. identify the eye higher in primary gaze (ie right hypertropia see below) SR IO **IO SR** **IR SO** SO IR 2. identify more hypertropic eye in left and right gaze (ie a right SO which would be worse in left gaze below) SR **IO** IO **SR** IR **SO** SO **IR** 3. Identify the more hypertropic eye in left and right head tilt (ie a right SO which would be worse in right head tilt) **SR** IO **IO** SR IR **SO** SO **IR** **BINGO:** SR IO IO SR IR **SO** SO IR

Question 31

Juvenile X-linked retinoschisis

Answer 31

clevage of the retina at the NFL (as opposed to the senile retinoschisis which is in the OPL) B waves reduced (a waves normal because photoreceptors are unaffected) Macula involved early showing microcysts and radiating retinal folds No leakage on FA Vitreous veils and strands, can lead to VH.

Question 32

What are the primary and secondary actions of all the EOMS (rules)?

Answer 32

easy to remember with these rules a) primary action of IR and SR are depression and elevation respectively b) the primary actions of the oblique muscles are always some type of TORSION c) use the mnemonic "SIN-RAD" to remember that the superior muscles IN-tort and the recti muscles AD-duct d) the secondary actions of the obliques is OPPOSITE to their names (ie IO elevates) e) the teritiary actions of these mucles is either adduction or abduction

Question 33

Apert syndrome

Answer 33

Apert syndrome: Craniosynostosis Syndactyly (can't more their hands "Apert") (unlike Crouzon), internal organ malformations, and mental deficiency AD, from 2 different mutations of FGFR2 (same gene as crouzon), chromo 10 Ddx: Crouzon (**no syndac** memo: these pts can pick up croutons with their fingers), Pfeiffer syndrome (cloverleaf skull)

Question 34

Criteria for NF1 (list 7)

Answer 34

1. \>6 cafe au lait spots that are \>5mm in pre-puberty and \>15 mm in post-puberty 2. 2 or more Lisch nodules 3. Axillary/inguinal/or other intertriginous freckling 4. 2 or more neurofibromas or 1 plexiform neurofibroma 5. A first degree relative with NF1 6. Optic nerve glioma 7. a distinctive osseous lesion (eg spheniod bone dysplastia)

Question 35

what are the classic ocular signs of dorsal midbrain syndrome (aka parinaud syndrome) (5) What are the most common causes in children, adults, and elderly pts?

Answer 35

1. Paralysis of upgaze 2. defective (voluntary) convergence 3. pupillary light-near dissociation 4. Convergence-retraction "nystagmus" (pt asked to track a downward-rotating OKN drum which would normally elicit as attempted upward saccard - instead the pt will have convergence and retraction of both eyes since there is co-contraction of all horizonal EOMS) 5. eyelid retraction ("collier's sign") Children- pinealoma and congenital aqueductal stenosis Young adult women - MS Elderly pts - midbrain stroke

Question 36

Megalocornea: definition

Answer 36

**\>13 mm** in pts older then 2, **\>12 mm** in infants Important to rule out glaucoma Often associated with anterior megalophthalmos, an X-linked recessive disorder

Question 37

what is the ddx for optically empty vitreous?

Answer 37

Wagner vitreoretinal dystrophy: high myopia, lattice, RD Stickler syndrome: same as above but with systemic features (marfanoid, pierre robin anomaly, arthritis, deafness, heart defects) Goldmann-Favre: Foveal and peripheral retinoschisis, attenuted vessles, optic nerve pallor, cataract

Question 38

List the congenital optic nerve malformations and their systemic association:

Answer 38

Morning glory disc: excavated nerve with overlying glial proliferation. * hypoplasia of the cerebral arteries and Moyamoya, transsphenoidal basal encephalocele, PHACE syndrome Optic nerve colobomas: CHARGE syndrome Optic pits: may be considered a small coloboma * serous elevation of the retina Optic nerve hypoplasia: absence of the septum pellucidum, pituitary abnormalities, (de morsier sydnome + hypothalamic/pituitary dysfunction)