Oguchi Disease Flashcards
1
Q
What are the symptoms of Oguchi Disease?
A
Congenital nigh blindness
Mizuo-Nakamura phenomennon
-abnormal golden yellow discoloration of the fundus in the eye
2
Q
What genes are involved in Oguchi disease?
A
SAG gene on chromosome 2q37 (type 1)
-codes for protein arrestin
GRK1 gene on chromosome 13q34 (type 2)
-codes for a protein (rhodopsin kinase) found in rods of the eye
3
Q
What is the inheritance pattern for Oguchi disease?
A
Autosomal recessive
4
Q
What is the phenotype for the heterozygous in Oguchi disease?
A
They are carriers and are unaffected.
