Oguchi disease

Oguchi disease (pronounced: oh-goo-chee disease) is a rare, inherited type of night blindness that is typically non-progressive and characterized by a distinctive golden or silvery sheen that appears in the retina under light adaptation. This condition is named after the Japanese ophthalmologist, Makoto Oguchi, who first described it in 1907.

Etymology

The term "Oguchi disease" is derived from the name of its discoverer, Dr. Makoto Oguchi. The term "disease" is derived from the Old French malaise, meaning discomfort or illness.

Symptoms

The primary symptom of Oguchi disease is difficulty seeing in low light or at night (nyctalopia). However, vision in bright light is usually normal. Another characteristic feature of this condition is the "Mizuo phenomenon," where the retina appears golden or silvery in the dark but returns to a normal color in light.

Causes

Oguchi disease is caused by mutations in either the SAG (S-antigen; retina and pineal gland) gene or the GRK1 (G protein-coupled receptor kinase 1) gene. These genes are involved in the process that regenerates light-sensitive molecules in the retina for continuous vision.

Diagnosis

Diagnosis of Oguchi disease is based on the clinical symptoms, characteristic findings on examination of the retina, and confirmed by genetic testing.

Treatment

There is currently no specific treatment for Oguchi disease. Management is focused on addressing the symptoms, such as using low vision aids for night blindness.

Related Terms

External links

Medical encyclopedia article on Oguchi disease
Wikipedia's article - Oguchi disease

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