Oguchi

Oguchi disease is a rare, autosomal recessive form of congenital stationary night blindness (CSNB) characterized by the Mizuo-Nakamura phenomenon, where the retina appears golden or greenish-yellow in the dark but returns to a normal appearance in light. The disease is named after the Japanese ophthalmologist, Yoshizo Oguchi, who first described it in 1907.

Symptoms and Signs[edit | edit source]

The primary symptom of Oguchi disease is night blindness, or the inability to see well in low light conditions. However, unlike other forms of CSNB, patients with Oguchi disease have normal visual acuity and color vision. The unique Mizuo-Nakamura phenomenon is a diagnostic feature of this condition.

Causes[edit | edit source]

Oguchi disease is caused by mutations in either the SAG (S-antigen; arrestin) or the GRK1 (rhodopsin kinase) gene. These genes are involved in the phototransduction pathway, a process in the retina that converts light into electrical signals.

Diagnosis[edit | edit source]

Diagnosis of Oguchi disease is based on the clinical features, particularly the Mizuo-Nakamura phenomenon. Genetic testing can confirm the diagnosis by identifying mutations in the SAG or GRK1 genes.

Treatment[edit | edit source]

There is currently no cure for Oguchi disease. Management is focused on addressing the symptoms, particularly the night blindness. Some patients may benefit from the use of low vision aids.

Epidemiology[edit | edit source]

Oguchi disease is extremely rare, with fewer than 50 cases reported worldwide. It is more common in the Japanese population due to a higher frequency of mutations in the SAG gene.

See also[edit | edit source]

Oguchi Resources
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