Visual Genetics Flashcards
1
Q
Aicardi Syndrome
A
Retinal abnormalities
2
Q
CHARGE association
A
coloboma, microphalmia
3
Q
Galactosemia
A
cataracts
4
Q
Homocystinuria
A
dislocated lens, glaucoma
5
Q
Hurler Syndrome
A
Cloudy cornea
6
Q
Lowe Syndrome
A
Cataracts, galucoma
7
Q
Marfan Syndrome
A
Dislocated lens
8
Q
Osteogenesis imperfecta
A
Blue, sclera, cataracts
9
Q
Osteopetrosis
A
Cranial nerve palsies, optic atrophy
10
Q
Stickler syndrome
A
Extreme myopia
11
Q
Tuberous sclerosis
A
retinal defects, iris depigmentation
12
Q
Tay-Sachs disease
A
Cheery-red spots in macula, optic nerve atrophy
13
Q
Trisomy 13, trisomy 18
A
micropthalmia, coloboma
14
Q
Zellweger syndrome
A
Cataracts, retinitis pigmentosa
