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

Abstract

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.

Keywords: Mizuo–Nakamura phenomenon; Oguchi; case report; congenital; rhodopsin.

Figure 1

(A, B) Fundus photograph of the right and left eye shows golden-yellow reflex (the Mizuo–Nakamura phenomenon). (C, D) Fundus photograph of the right and left eye shows normal fundus color, after 2 h of dark adaptation.

Figure 2

(A, B) Optical coherence tomography cross-sectional of the right and left eye shows high-intensity regions in the outer segment. (C, D) Optical coherence tomography cross-sectional shows the disappearance of these deposits and normal intensity.