Visual Genetics Flashcards Preview

Medical aspects > Visual Genetics > Flashcards

Flashcards in Visual Genetics Deck (14):
1

Aicardi Syndrome

Retinal abnormalities

2

CHARGE association

coloboma, microphalmia

3

Galactosemia

cataracts

4

Homocystinuria

dislocated lens, glaucoma

5

Hurler Syndrome

Cloudy cornea

6

Lowe Syndrome

Cataracts, galucoma

7

Marfan Syndrome

Dislocated lens

8

Osteogenesis imperfecta

Blue, sclera, cataracts

9

Osteopetrosis

Cranial nerve palsies, optic atrophy

10

Stickler syndrome

Extreme myopia

11

Tuberous sclerosis

retinal defects, iris depigmentation

12

Tay-Sachs disease

Cheery-red spots in macula, optic nerve atrophy

13

Trisomy 13, trisomy 18

micropthalmia, coloboma

14

Zellweger syndrome

Cataracts, retinitis pigmentosa