Genetics

Front 1

Back 1

Oil droplet cataract, galactosemia

Front 2

Primary Congenital Glaucoma (4)

Back 2

Typically sporadic
1) CYP1B1
2) GLC3A, GLC3B, GLC3C

Front 3

Axenfeld-Rieger

Back 3

AD OPITX2 or FOXC1

Front 4

Juvenile Onset Glaucoma

Back 4

GLC1A (aka MYOC)

Front 5

Pseudoexfoliation Glaucoma

Back 5

LOXL1

Front 6

Normotension Glaucoma

Back 6

OPTN

Front 7

MPS type 1 categories and ocular effect?

Back 7

MPS: lysosomal alpha-L-iduronidase Scheie, Hurler-Scheie, Hurler

Front 8

Ocular Conditions associated with Aniridia
1-5.

Back 8

1. CACG
2. progressive corneal opacification
3. nystagmus
4.foveal hypoplasia
5. cataracts
n.b. sporadic cases with wilms tumor

Front 9

Dorsal Midbrain Syndrome Signs? 1-5
Children?
Young Women?
Elderly?

Back 9

Paralysis of Upgaze
Defective convergence
Pupillary light-near dissociation
Convergence-retraction "nystagmus"
Eyelid retraction
1) Pinealoma, Congenital aqueductal stenosis
2) MS
3) midbrain stroke

Front 10

Associations
Congenital?
Acquired?

Back 10

NF1
Prader-Willi
Axenfeld-Rieger with bilateral ectropion and stromal hypoplasia
Iris Rubeosis
Iris Melanomas

Front 11

Lesion associated with what syndrome?

Back 11

1. Cartilage
2. Adipose
3. Lacrimal Gland
Limbal Dermoid w/Goldenhar Syndrome: Oculoauriculvertebral syndrome
1. Hemifacial microsomia, ear deformities, upper eyelid colobomas, and vertebral anomalies

Front 12

Thyroid ophthalmopathy
order of frequency

Back 12

IR>MR>SR>LR

Front 13

Back 13

X-Linked dominant, agenesis of CC, CR lacunae, choroid plexus papilloma, infantile spasms

AIcardi syndrome: x linked dominant, lethal in M except in XXY

Front 14

Dissociated Nystagmus occurs in?

Back 14

INO
Myasthenia Gravis
Weakening of MR

Front 15

Mucopolysaccharidoses

Back 15

I-VII all AR except hunter which is XR
I Hurler-Scheie- Corneal clouding, RPE deg, Optic Atrophy
II Hunter, RPE deg, OA
III San Filippo, RPE deg
IV Morquio -Corneal clouding
VI Maroteaux-Lamy- Corneal Clouding
VII Sly

Front 16

Mucolipidoses I-IV

Back 16

All AR
I. Sialidosis, cherry-red spot myoclonus syndrome; neuraminidase
II. I-cell disease multiple lysosomal enzymes -Hurler like
III. Pseudo-hurler polydystrophy, Hurler like w/puffy eyelids
IV. Partial ganglioside sialidase photophobia

Front 17

Back 17

Goldenhar-oculoauriculovertebral spectrum
-Hemifacial micorsomia, epibulbar and limbal dermoids, eyelid colobomas, microphthalmia, cataract, iris abnormalities, duane syndrome (branchial arch;first 2 w/ear, maxillary, and mandibular bone)

Front 18

Back 18

Treacher Collins, mandibulofacial dysostosis, downward slant of palpebral fissure, low-set abnormal ears, notch, or curving of infertemporal eyelid margin, and maxillary and mandibular hypoplasia , MG and cilia may be absent and pseudo and true colobomas of outer 1/3 of lower eyelids. AD w/mutation in TCOF1 gene

Front 19

Back 19

Respiratory probems ,micrognathia, glossoptosis, and cleft palate, frequently w/stickler syndrome - Pierre Robin syndrome

Front 20

Back 20

Crouzon syndrome, most common AD FGFR2 gene on chromosome 10. Full synostosis of both coronal sutures, broad retruded forehead, brachycephaly, tower skull, hypertelorism, proptosis, inferior scleral show. No hand or foot abnormalities

Front 21

Crouzon w/syndactyly hands and feet.

Back 21

Apert Syndrome, c10 FGFR2
Less severe syndactyly and more severe craniosynostosis w/clover leaf skull is Pfeiffer syndrome , short broad thumbs and toes; AD FGFR genes 1 or 2

Front 22

Back 22

Saethre-Chotzen Syndrome
Milder craniosynostosis syndrome. Plagiocephaly, asymmetric face, low hairline, ptosis, and ear abnormalities. Shortened digits and mild syndactyly. AD TWIST gene on chromosome 7

Front 23

Riley-day syndrome

Back 23

9q, familial dysautonomia- relative insensitivity to pain, temp. instability, and absence of fungiform papillae of tongue. Exposure keratitis and k-ulcers common. Failure to respond to 1:1000 histamine.