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

Abstract

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