Oguchi disease

Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon, or Mizuo-Nakamura phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally (summary by Fuchs et al., 1995). Genetic Heterogeneity of Oguchi Disease Oguchi disease-2 (CSNBO2) is caused by mutation in the rhodopsin kinase gene (GRK1; 180381) on chromosome 13q34.

OMIM