Genetics: Retina Flashcards
0
Q
cornea verticillata, dilated and tortuous retinal and conjunctival vessels
A
two ocular findings in Fabry disease
1
Q
ceramide trihexoside, alpha galactosidase
A
Fabry disease enzyme (two names)
2
Q
cerebroside alpha-galactosidase
A
Krabbe leukodystrophy enzyme
3
Q
optic atrophy, cherry-red spot
A
two ocular findings in Krabbe disease
4
Q
arylsulfatase A
A
metachromatic leukodystrophy enzyme
5
Q
retinal degeneration
A
ocular finding in metachromatic leukodystrophy
6
Q
Hurler Syndrome, Scheie syndrome
A
two lysosomal storage disorders linked to the same enzyme
