Oguchi disease

From Ganfyd

Jump to: navigation, search

Congenital, static true night blindness and diffuse yellow or gray coloration of the fundus after any light exposure. This is called the called the Mizuo phenomenon. After 2 or 3 hours in total darkness, the normal color of the fundus returns. Due to mutations in either:

  1. ARR2 gene at 2q37.1 which codes for S-arrestin.
  2. GRK1 gene at 13q34 which codes for rhodopsin kinase
Personal tools