RETINAL DYSTROPHIES AND SYNDROMES
Congenital Stationary Night Blindness
Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon, since young childhood or birth with normal day vision.
The retina has a typical diffuse golden-yellow or silver-gray discoloration of the fundus in the presence of light that disappears after dark-adaptation and appears again after the onset of light. This phenomenon is thought to be caused by the overstimulation of rod cells.
No evidence of spicules, macular changes or chorioretinal atrophy is observed. The visual acuity and the caliber of retinal blood vessels are normal and the cone response on electroretinogram is normal.
The diagnosis based on fundoscopy and electroretinography is confirmed by genetic tests.