Vision

Question 1

What are some chromosomal abnormalities with anophthalmia, microphthalmia and coloboma?

Answer 1

4p syndrome
Trisomy 18
Trisomy 22

Question 2

What are some single gene disorders with anophthalmia, microphthalmia and coloboma?

Answer 2

Lenz microphthalmia and oculofaciocardiodental syndrome (BCOR)
CHARGE syndrome (CHD7)
SOX2, OTX, PAX6

Non-syndromic cases: RAX and VSX2 genes

Question 3

What is the phenotype of Bardet Biedl syndrome?

Answer 3

Retinitis pigmentosa
Obesity
Polydactyly
Males have hypogonadism and infertile

Question 4

What is the phenotype of oculocutaneous albinism?

Answer 4

Fair skin and light hair
Increased risk of melanoma
Reduced pigmentation of the iris
Vision problems, nystagmus
Similar to Hermansy Pudlak syndrome which also has lung, bowel, and bleeding disorder

Question 5

What is the phenotype of Septo-Optic Dysplasia

Answer 5

Underdevelopment of the optic nerves and impaired vision
Abnormal development of the corpus callosum and neurological problems
Pituitary hypoplasia leads to hormone deficiency and genital abnormalities

Question 6

What is the phenotype of Stickler syndrome?

Answer 6

Myopia, cataract, retinal detachment
Hearing loss
Cleft palate, pierre robin sequence

Question 7

What is aniridia?

Answer 7

Absent iris

Question 8

What disorders have aniridia?

Answer 8

WAGR (Wilms tumor, Aniridia, Genitourinary anomalies, Mental retardation)
- 11p13del including WT1 and PAX6

Gillespie syndrome (ITPR1)

Question 9

What is glaucoma

Answer 9

Group of eye conditions that damage optic nerve
- Associated with elevated intraocular pressure

Question 10

What genes are related to glaucoma

Answer 10

Congenital
- CYP1B1, LTBP2

Juvenile
- MYOC

Question 11

What is a congential cataract

Answer 11

Opacification of the lens from birth

Question 12

In what disorders do you see congenital cataracts?

Answer 12

Trisomy 13, 18, and 21
Deletion 5p, 18p, and 18q
Lowe, Alport, Smith-Lemli-Opits, Stickler, Zellweger, myotonic dystrophy, Cockayne, Incontinentia Pigmenti, ichthyosis

Question 13

What are five inherited retinal dystrophies?

Answer 13

Diffuse photoreceptor disease
Macular dystrophies
Foveal dystrophies
Choroidopathies
Vitreoretinopathies

Question 14

How do you diagnose a retinal dystrophy?

Answer 14

Visual acuity
Eye exam with slit lamp biomicroscopy
Retinal imagine
Visual field testing
Retinal electrophysiology
Dark adaptation
Color vision testing

Question 15

What was the first gene therapy used to treat?

Answer 15

LUXTURNA AAV2-RPE65 gene therapy for retinal dystrophy