Oguchi Disease, Type 1

Background and History: 

Chuta Oguchi, a Japanese ophthalmologist, first described this condition in 1907.  It has its onset at birth, causing night blindness, and is not progressive.  Two types have been described.

Clinical Correlations: 

Oguchi disease is a nonprogressive disorder that causes night blindness.  It is present at birth.  Daytime vision, color vision, and side vision are all normal.  It is a unique condition in which the color of the retina in the back of the eye is golden or gray-white in lighted conditions but this color disappears in dark situations.  There is no associated systemic disease.

Genetics: 

This is an autosomal recessive disorder requiring the presence of two mutations, one inherited from each parent.

Diagnosis and Prognosis: 

The diagnosis is usually made by an ophthalmologist based upon the symptoms, color of the retina, and the results of an electroretinogram (ERG).  The prognosis for vision in daylight is excellent but night blindness is permanent and no treatment is available.  No other organs are affected.

Additional Information
Inheritance/Pedigree: 
Autosomal recessive