Oculocutaneous albinism Flashcards
1
Q
prevalence
Oca1 and 2 percent of incidence.
A
1:20,000
40-50%
2
Q
Mutations in what gene
A
Tyrosinase gene. responsible for deficient tyrosinase activity in melanocytes.
3
Q
Present at birth?
Hair color if tyrosinase positive and negative
A
Yes.
Hair:White(tyrosinasenegative;);yellow,cream,lightbrown(tyrosinasepositive);red platinum
4
Q
Eyes lesions.
A
(Table 13-1).
■ Eyes: Nystagmus, reduction o visual activity, iris translucency decreased retinal pig-
ment, oveal hyperplasia, and strabismus.
5
Q
Dermatopathology.
A
Melanocytes present.
tyrosinase reduced.
6
Q
Treatment
A
No treatment
7
Q
How to test eyes for translucency?
A
Dark room, pointed flashlight in the sclera
