Symptoma

Oguchi Disease Type 2

CSNBO2

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]

  • Malingering

    In 1907 at the Army Hospital in Tokyo, Chuta Oguchi examined a soldier who complained of night blindness: the patient was suspected of malingering. Oguchi found a peculiar fundus colour with golden and mottled appearance and dark retinal vessels. [whonamedit.com]

    In 1907 at the Army Hospital in Tokyo, he examined a soldier who complained of night blindness: the patient was suspected of malingering. Dr. Oguchi found a peculiar fundus color with golden and mottled appearance and dark retinal vessels. [www2h.biglobe.ne.jp]

  • 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]

  • Macula

    The reduced/delayed mf-ERG responses and visual field defects in paracentral macula areas are most likely to be correlated with ISOS boundary defects and thinning of the ONL. [ncbi.nlm.nih.gov]

    The deletion mutation (1147delA) was identified homozygously.The reduced/delayed mf-ERG responses and visual field defects in paracentral macula areas are most likely to be correlated with ISOS boundary defects and thinning of the ONL. [uniprot.org]

    In macular degeneration (see Chap. 243 ), cones and rods degenerate in the macula but not elsewhere in the retina. [ommbid.mhmedical.com]

    Few small drusen in the macula OU. Normal periphery without bone-spicule-like pigmentation (Figure 1). Figure 1. Color fundus photos showed a grossly normal fundus appearance. [webeye.ophth.uiowa.edu]

    They involve the posterior pole, spare the macula, and extend into the midperiphery ( Fig. 111-2 ). Fluorescein angiography shows focal areas of transmission hyperfluorescence, which do not correlate with the fundus pathology. [medtextfree.wordpress.com]

  • Night Blindness

    From Wikidata Jump to navigation Jump to search human disease Oguchi disease-1 CSNBO1 congenital stationary night blindness Oguchi type 1 Night Blindness, Congenital Stationary, Oguchi Type 1 Oguchi Disease type 1 OGUCHI DISEASE 1 edit English Oguchi [wikidata.org]

    Oguchi disease type 2 is a rare autosomal recessive form of congenital stationary night blindness. [ncbi.nlm.nih.gov]

    Oguchi disease, also called congenital stationary night blindness, Oguchi type 1 or Oguchi disease 1, is an autosomal recessive form of congenital stationary night blindness associated with fundus discoloration and abnormally slow dark adaptation. [en.wikipedia.org]

  • Retinal Pigmentation

    Before dark adaptation, the FD-OCT images at the fovea had three identifiable reflection bands, namely, the external limiting membrane (ELM), the border between the photoreceptor inner and outer segments (IS/OS line), and the retinal pigment epithelium [ncbi.nlm.nih.gov]

    Funduscopy showed retinal pigment epithelium atrophy along the vascular arcade bilaterally. [uniprot.org]

    Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. [genecards.org]

  • Suggestibility

    The segregation data obtained suggested that the affected subjects are homozygous by descent for a region between D2S172 and D2S345. [doi.org]

  • 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]

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]

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. [orpha.net]

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]

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]

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]

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]

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]

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]

"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]

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]

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]