A Case of a Combination of Oguchi’s Disease and Congenital Retinoschisis

Abstract

We report here a rare case of a combination of Oguchi’s disease and congenital retinoschisis. A 36-year-old male patient presented with a decrease in vision in both eyes and night blindness. Indirect ophthalmoscopy revealed bilateral macular stellate striations and golden-gray discoloration of the retina outside the vascular arcades. This discoloration turned to a normal retina after complete adaptation to darkness (Mizuo-Nakamura phenomenon).

Mizuo–Nakamura phenomenon in X-linked retinoschisis

“…The Mizuo–Nakamura phenomenon has been previously reported in XLRS, 8 , 10 , 11 however, the patients in these reports were rarely genetically proven to have XLRS, 8 , 10 , 11 and there was no genetic evidence that a patient with genetically proven XLRS who showed the Mizuo-Nakamura phenomenon did not have Oguchi's disease. 11 Unless a patient with genetically proven XLRS tests negative for variants of the genes associated with Oguchi's disease, the comorbidity of XLRS with Oguchi's disease remains a matter of debate because the Mizuo–Nakamura phenomenon is a pathognomonic characteristic of Oguchi's disease.…”