Oguchi disease

Oguchi disease, also called congenital stationary night blindness, Oguchi type 1 or Oguchi disease 1, is an autosomal recessive form of congenital stationary night blindness associated with fundus discoloration and abnormally slow dark adaptation.

Characteristics
Oguchi disease presents as a congenital, static hemeralopia with diffuse yellow or gray coloration of the fundus under light conditions. After two to three hours in total darkness, the normal color of the fundus returns. This effect is known as the Mizuo-Nakamura phenomena, and is thought to be caused by the overstimulation of rod cells.

Cause and Genetics
Several mutations have been implicated as a cause of Oguchi disease. These include mutations in the arrestin gene or the rhodopsin kinase gene.

The condition is more frequent in individuals of Japanese ethnicity.

Discovery
It was discovered by Dr. Chuta Oguchi (1875-1945), A Japanese opthalmologist, in 1907.