A 5-year-old Syrian female was born with Oguchi disease: a rare case report

Oguchi disease is a rare autosomal recessive disease that causes congenital stationary blindness, which is distinguished by the Mizuo-Nakamura phenomenon and caused by mutations of rhodopsin kinase gene or the arrestin gene.

A 5-year-old Syrian female complains of stationary night blindness, investigated by fundus photo and optical coherence photograph and diagnosed as Oguchi disease.

Oguchi disease is an autosomal recessive retinal disorder causing stationary nyctalopia. It is characterized by Mizuo-Nakamura phenomenon, which is the alteration of fundus reflex color from golden-yellow to normal with dark adaptation. Literature reports suggest that mutations in rhodopsin kinase or arrestin genes may cause Oguchi's disease.

Optical coherence tomography is of great importance in Oguchi's disease. Optical coherence tomography usually shows an absence of the inner and outer segments line in the extrafoveal area during a partly dark-adaptation phase.