Oguchi disease presents as a congenital, static hemeralopia with diffuse yellow or gray coloration of the fundus under light conditions. After two to three hours in total darkness, the normal color of the fundus returns. [betterworldbooks.com]

Genetic studies were performed to identify the causative mutation in a 15-year-old girl diagnosed with congenital stationary night blindness (CSNB) presenting Mizuo-Nakamura phenomenon, a typical Oguchi disease symptom. [ncbi.nlm.nih.gov]

Expert reviewer(s): Dr Elena ALLER - Dr Carmen AYUSO - Dr José María MILLÁN SALVADOR - Last update: December 2011 The documents contained in this web site are presented for information purposes only. [orpha.net]

Characteristics of Oguchi's disease The fundus oculi presents a most peculiar appearance. [ijo.in]

This is a case report of a 20 yr old male patient of Oguchi disease who presented with classical symptoms and morphological features in the form of Mizuo phenomenon. [ PDF ]* [marinemedicalsociety.in]

• Turkish

  Thus, the present study reports a novel missense mutation of GRK1 in the affected members of a consanguineous Turkish family. [ncbi.nlm.nih.gov]

• Absent A-Waves

  Electroretinography showed abnormal a-wave and absent b-wave. The presence of 1147delA in the arrestin gene was demonstrated. [ncbi.nlm.nih.gov]

Management and treatment To date, there is not a specific treatment for Oguchi disease. Prognosis In Oguchi disease the visual prognosis is good in absence of progression of symptoms. [orpha.net]

Treatment of the disease is limited. In the People's Republic of China, high doses of Vitamin K and zinc are infused but thus treatment has been declared as quackery in the Republic of China (Taiwan) and by the Timor Leste Academy of Ophthalmology. [en.wikipedia.org]

Treatment Treatment Options: No treatment is available. References References Fuchs S, Nakazawa M, Maw M, Tamai M, Oguchi Y, Gal A. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. [disorders.eyes.arizona.edu]

Prognosis In Oguchi disease the visual prognosis is good in absence of progression of symptoms. [rarediseases.info.nih.gov]

Etiology Oguchi disease is caused by mutations in the SAG gene coding for arrestin located on chromosome 2q37(Oguchi type 1) or by mutations in the GRK1 gene that codes for the rhodopsin kinase located on the chromosome 13q34 (Oguchi type 2). [rarediseases.info.nih.gov]

Different etiologies for syncope, including cardiac and non-cardiac causes, were ruled out. He had poor vision in the right eye since childhood, which he attributed to trauma. His brother also had a history of poor vision. [djo.harvard.edu]

Epidemiology Oguchi disease is a very rare condition with approximately 50 cases described in the literature to date. [rarediseases.info.nih.gov]

Summary Epidemiology Oguchi disease is a very rare condition with approximately 50 cases described in the literature to date. [orpha.net]

Relevant External Links for SAG Genetic Association Database (GAD) SAG Human Genome Epidemiology (HuGE) Navigator SAG Atlas of Genetics and Cytogenetics in Oncology and Haematology: SAG No data available for Genatlas for SAG Gene Simultaneous mutation [genecards.org]

This effect is known as the Mizuo-Nakamura phenomena, and is thought to be caused by the overstimulation of rod cells. [1] Pathophysiology Oguchi disease has an autosomal recessive pattern of inheritance. [wikidoc.org]

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(See Etiology and Pathophysiology.) In 1903, Italian pathologists Marchiafava and Bignami described 3 alcoholic men who died after having seizures and coma. [emedicine.medscape.com]

A case of CADASIL presenting as schizophreniform organic psychosis has been reported. [6] Pathophysiology [ edit ] The underlying pathology of CADASIL is progressive hypertrophy of the smooth muscle cells in blood vessels. [en.wikipedia.org]

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P recision medicine is defined by the National Institutes of Health as “an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person.” [retinalphysician.com]

Recently, a homozygous defect in the arrestin gene has been discovered in Japanese patients with Oguchi’s disease. 6 7 Arrestin is known to bind to phosphorylated rhodopsin and to prevent it from activating transducin. [bjo.bmj.com]