Oguchi disease

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Several mutations have been implicated as a cause of Oguchi disease. These include mutations in the arrestin gene or the rhodopsin kinase gene.{{OMIM|258100}}

The condition is more frequent in individuals of Japanese ethnicity.{{cite web | title = Oguchi Disease | publisher = Foundation Fighting Blindness | url = http://www.blindness.org/visiondisorders/causes.asp?type=21 | access-date = 2007-05-25 |archive-url = https://web.archive.org/web/20070406041237/http://blindness.org/visiondisorders/causes.asp?type=21 |archive-date = 2007-04-06}}

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|date=September 2020}}

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|date=October 2021}}

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.{{cite book | last = Hartnett | first = Mary Elizabeth |author2=Antonio Capone |author3=Michael Trese | title = Pediatric Retina: Medical and Surgical Approaches Guide to Rare Disorders | publisher = Lippincott Williams & Wilkins | year = 2004 | isbn = 978-0-7817-4782-0 }}

Other conditions with similar appearing fundi include{{citation needed|date=September 2020}}

• Cone dystrophy
• X-linked retinitis pigmentosa
• Juvenile macular dystrophy

These conditions do not show the Mizuo-Nakamura phenomenon.

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.{{citation needed|date=October 2021}}

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.{{cn|date=October 2024}}

The S, M and L cone systems are normal.{{cn|date=October 2024}}

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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).{{cn|date=October 2024}}

{{Reflist}}

• {{RareDiseases|10118|Oguchi disease}}

{{Medical resources

| DiseasesDB =

| ICD10 =

| ICD9 = {{ICD9|368.61}}

| ICDO =

| OMIM = 258100

| MedlinePlus =

| Orphanet = 75382

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{{Eye pathology}}

{{Cell membrane protein disorders}}

{{Deficiencies of intracellular signaling peptides and proteins}}

Category:Autosomal recessive disorders

Category:Rare diseases

Category:Visual disturbances and blindness