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Oguchi Disease

Oguchi Syndrome


Presentation

  • 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]
  • Longer periods in the dark produced larger rod a-wave but only to the first flash presented. The amplitude of the response to subsequent flashes was essentially independent of the period of dark adaptation.[ncbi.nlm.nih.gov]
  • Thus, the present study reports a novel missense mutation of GRK1 in the affected members of a consanguineous Turkish family.[ncbi.nlm.nih.gov]
  • In the present study markers which map to distal chromosome 2q were typed in an inbred Oguchi pedigree. The segregation data obtained suggested that the affected subjects are homozygous by descent for a region between D2S172 and D2S345.[ncbi.nlm.nih.gov]
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]
Corneal Edema

Workup

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]

Treatment

  • 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]
  • Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice.[books.google.de]

Prognosis

  • Prognosis In Oguchi disease the visual prognosis is good in absence of progression of symptoms.[orpha.net]

Etiology

  • 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).[orpha.net]

Epidemiology

  • Summary Epidemiology Oguchi disease is a very rare condition with approximately 50 cases described in the literature to date.[orpha.net]
  • Epidemiology Oguchi disease is a very rare condition with approximately 50 cases described in the literature to date.[rarediseases.info.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • 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]
  • Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview. Ophthalmic Genet. 2004;25(2):101-110. van den Hurk JA, Schwartz M, van Bokhoven H, et al.[retinalphysician.com]
  • This pathophysiological process may be a common final pathway when the phototransduction cascade is affected (see Oguchi’s disease ). Pathology Histopathology studies of these disorders are quite rare.[medtextfree.wordpress.com]

Prevention

  • 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]
  • 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]
  • 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]
  • […] migraine and stroke – are similar to those without CADASIL, these treatments are almost exclusively empiric, as data regarding their benefit to CADASIL patients is limited. [14] Antiplatelet agents such as aspirin , dipyridamole , or clopidogrel might help prevent[en.wikipedia.org]

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