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]

• Short Stature

  Rib-Polydactyly Syndrome AR 99.54 23 of 23 EXOSC2 Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies AR 100 3 of 3 EYS Retinitis Pigmentosa AR 99.54 358 of 379 FAM161A Retinitis Pigmentosa AR 99.74 22 of 23 FDXR Auditory Neuropathy [igenomix.es]

• Fever

  Bardet-Biedl syndrome 11 615988 TRNT1 Retinitis pigmentosa and erythrocytic microcytosis, 616959 TRNT1 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 TRPM1 Night blindness, congenital stationary (complete [qgenomics.com]

• Diarrhea

  Página 54 - Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. ‎ Página 51 - Selective IgA deficiency: presentation of 30 cases and a review of the literature. ‎ [books.google.es]

• Hearing Impairment

  Cataract 41 116400 WFS1 {Diabetes mellitus, noninsulin-dependent, association with}, 125853 WRN Werner syndrome, 277700 YAP1 Coloboma, ocular, 120433 YAP1 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation [qgenomics.com]

• Anger

  Mohamed Yattara ST, starts off on loan at Angers but brought him back as soon as I realised how good he was. 56 goals in two seasons, although Benzia has now pushed him to bench. [champman0102.co.uk]

• Irritability

  […] disease, is an acute inflammatory, immune-mediated disorder that typically affects middle-aged adults and involves melanocyte-containing organs such as the skin, ear, meninges, and eye.Acute exudative panuveitis occurs in both eyes and causes ocular irritations [www2h.biglobe.ne.jp]

Treatment Treatment Options: No treatment is available. References Yamamoto S, Sippel KC, Berson EL, Dryja TP. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet. 1997 Feb;15(2):175-8. [disorders.eyes.arizona.edu]

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]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

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. [ipfs.io]

The prognosis for vision in daylight is excellent but night blindness is permanent and no treatment is available. No other organs are affected. [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]

Etiology and Pathophysiology It has long been accepted that the etiology of Marchiafava-Bignami disease (MBD) is likely either toxic or nutritional, as it is seen predominantly in malnourished alcoholics. [emedicine.medscape.com]

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]

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]

Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any [books.google.de]

(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]

"I have a particular interest in cervical cancer prevention as well as treatment but particularly prevention," he says. He's currently working with researchers at Emory who are trying to broaden the distribution of HPV vaccination for prevention. [news.emory.edu]

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments and cures for people affected by retinitis pigmentosa, age-related macular degeneration, Usher syndrome and the entire spectrum [blindness.org]

ERM)の術前・術後のOCT 橋本 英明 / 岸　章治 Ophthalmic Surgeons 5巻4号 Page92-94 2006年 講演・口頭発表等 胞状網膜剥離を呈した透析患者の原田病2例 第60回 日本臨床眼科学会 2005年 特発性黄斑前膜にガスタンポナーゼを用いた群と用いなかった群の視力・網膜厚の検討 第５９回臨床眼科学会 2004年 特発性黄斑前膜に対する内境界膜剥離術の評価 第５７回臨床眼科学会 2003年 Internal limiting membrane peeling prevents [researchmap.jp]

Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]

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]