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Oguchi disease

Field	Value
synonyms	Congenital stationary night blindness, Oguchi type 1 or Oguchi disease 1
image	Autosomal recessive - en.svg
caption	Oguchi disease has an autosomal recessive pattern of inheritance.

Oguchi disease is an autosomal recessive form of congenital stationary night blindness associated with fundus discoloration and abnormally slow dark adaptation.

Genetics

Several mutations have been implicated as a cause of Oguchi disease. These include mutations in the arrestin gene or the rhodopsin kinase gene.

Type	OMIM	Gene
Type 1	{{OMIM	258100	none}}
Type 2	{{OMIM	613411	none}}

The condition is more frequent in individuals of Japanese ethnicity.

Diagnosis

Oguchi disease present with nonprogressive night blindness since young childhood or birth with normal day vision, but they frequently claim improvement of light sensitivities when they remain for some time in a darkened environment.

On examination patients have normal visual fields but the fundi have a diffuse or patchy, silver-gray or golden-yellow metallic sheen and the retinal vessels stand out in relief against the background.

A prolonged dark adaptation of three hours or more, leads to disappearance of this unusual discoloration and the appearance of a normal reddish appearance. This is known as the Mizuo-Nakamura phenomena and is thought to be caused by the overstimulation of rod cells.

Differential diagnosis

Other conditions with similar appearing fundi include

Cone dystrophy
X-linked retinitis pigmentosa
Juvenile macular dystrophy

These conditions do not show the Mizuo-Nakamura phenomenon.

Electroretinographic studies

Oguchi's disease is unique in its electroretinographic responses in the light- and dark-adapted conditions. The A- and b-waves on single flash electroretinograms (ERG) are decreased or absent under lighted conditions but increase after prolonged dark adaptation. There are nearly undetectable rod b waves in the scotopic 0.01 ERG and nearly negative scotopic 3.0 ERGs.

Dark-adaptation studies have shown that highly elevated rod thresholds decrease several hours later and eventually result in a recovery to the normal or nearly normal level.

The S, M and L cone systems are normal.

History

It was described by Chuta Oguchi (1875–1945), a Japanese ophthalmologist, in 1907. The characteristic fundal appearances were described by Mizuo in 1913.Treatment of the disease is limited. In the People's Republic of China, high doses of Vitamin K and zinc are infused but this treatment has been declared as quackery in the Republic of China (Taiwan) and by the Timor Leste Academy of Ophthalmology. In the U.S., affected persons have taken high doses of zinc (240 mg every two hours).

References

(May 1995). "Oguchi disease: suggestion of linkage to markers on chromosome 2q". Journal of Medical Genetics.
{{OMIM. 258100
"Oguchi Disease". Foundation Fighting Blindness.
Hartnett, Mary Elizabeth. (2004). "Pediatric Retina: Medical and Surgical Approaches Guide to Rare Disorders". Lippincott Williams & Wilkins.

Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

autosomal-recessive-disorders rare-diseases visual-disturbances-and-blindness

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