Hereditary fundus Flashcards
1
Q
Sickler syndrome
A
AD. STL1 - COL2A1
2
Q
Tyrosinase-negative oculocutaneous albinism
A
AR, “complete”
3
Q
Tyrosinase-positive oculocutaneous albinism
A
AR, “incomplete”
4
Q
Waardenburg syndrome
A
AD
5
Q
Ocular albinism
A
XLR
6
Q
Wagner syndrome
A
AD, gene VCAN
7
Q
Enhanced S-cone syndrome and Goldmann-Favre syndrome
A
AR, NR2E3
