Oguchi disease
Oguchi disease | |
---|---|
Other names | Congenital stationary night blindness, Oguchi type 1 or Oguchi disease 1[1] |
Oguchi disease has an autosomal recessive pattern of inheritance. | |
Specialty | Neurology |
Oguchi disease is an
Genetics
Several mutations have been implicated as a cause of Oguchi disease. These include mutations in the arrestin gene or the rhodopsin kinase gene.[1]
Type | OMIM
|
Gene |
---|---|---|
Type 1 | 258100 | SAG |
Type 2 | 613411 | GRK1
|
The condition is more frequent in individuals of Japanese ethnicity.[3]
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.[citation needed]
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.[citation needed]
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
Differential diagnosis
Other conditions with similar appearing fundi include[citation needed]
- 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
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.
Management
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History
It was described by
References
- ^ a b Online Mendelian Inheritance in Man (OMIM): 258100
- PMID 7616550.
- ^ "Oguchi Disease". Foundation Fighting Blindness. Archived from the original on 2007-04-06. Retrieved 2007-05-25.
- ISBN 978-0-7817-4782-0.
External links
- Oguchi disease at NIH's Office of Rare Diseases