Oguchi disease
- ️Fri Apr 06 2007
Wikipedia
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Oguchi disease Classification and external resources ICD-9 368.61 OMIM 258100 Oguchi disease, also called congenital stationary night blindness, Oguchi type 1 or Oguchi disease 1,[1] is an autosomal recessive[2] form of congenital stationary night blindness associated with fundus discoloration and abnormally slow dark adaptation.
Characteristics
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. This effect is known as the Mizuo-Nakamura phenomena, and is thought to be caused by the overstimulation of rod cells.[3]
Cause and Genetics
Oguchi disease has an autosomal recessive pattern of inheritance.
Several mutations have been implicated as a cause of Oguchi disease. These include mutations in the arrestin gene or the rhodopsin kinase gene.[1]
Type OMIM Gene Type 1 258100 SAG Type 2 613411 GRK1 The condition is more frequent in individuals of Japanese ethnicity.[4]
Discovery
It was discovered by Dr. Chuta Oguchi (1875-1945), A Japanese opthalmologist, in 1907.
References
- ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 258100
- ^ Maw, M. A.; John, S.; Jablonka, S.; Müller, B.; Kumaramanickavel, G.; Oehlmann, R.; Denton, M. J.; Gal, A. (May 1995). "Oguchi disease: suggestion of linkage to markers on chromosome 2q". Journal of Medical Genetics 32 (5): 396–398. doi:10.1136/jmg.32.5.396. PMC 1050438. PMID 7616550. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1050438. edit
- ^ Hartnett, Mary Elizabeth; Antonio Capone, Michael Trese (2004). Pediatric Retina: Medical and Surgical Approaches Guide to Rare Disorders. Lippincott Williams & Wilkins. ISBN 978-0781747820.
- ^ "Oguchi Disease". Foundation Fighting Blindness. Archived from the original on 2007-04-06. http://web.archive.org/web/20070406041237/http://blindness.org/visiondisorders/causes.asp?type=21. Retrieved 2007-05-25.
External links
- Oguchi disease at NIH's Office of Rare Diseases
v · Cell membrane protein disorders (other than Cell surface receptor, enzymes, and cytoskeleton) Arrestin Oguchi disease 1
Myelin Pelizaeus–Merzbacher disease · Dejerine-Sottas disease · Charcot–Marie–Tooth disease 1B, 2J
Pulmonary surfactant Cell adhesion molecule IgSF CAM: OFC7
Cadherin: DSG1 (Striate palmoplantar keratoderma 1) · DSG2 (Arrhythmogenic right ventricular dysplasia 10) · DSG4 (LAH1) · DSC2 (Arrhythmogenic right ventricular dysplasia 11)
Integrin: see cell surface receptor deficiencies
Tetraspanin TSPAN7 (X-Linked mental retardation 58) · TSPAN12 (Familial exudative vitreoretinopathy 5)
Other KIND1 (Kindler syndrome) · HFE (HFE hereditary hemochromatosis) · DYSF (Distal muscular dystrophy, Limb-girdle muscular dystrophy 2B)
see also other cell membrane proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfkv · d · eDeficiencies of intracellular signaling peptides and proteins GTP-binding protein regulators GTPase-activating protein
Marinesco–Sjögren syndrome · Aarskog–Scott syndrome · Juvenile primary lateral sclerosis · X-Linked mental retardation 1
G protein cAMP/GNAS1: Pseudopseudohypoparathyroidism · Progressive osseous heteroplasia · Pseudohypoparathyroidism · Albright's hereditary osteodystrophy · McCune–Albright syndrome
RAS: HRAS (Costello syndrome) · KRAS (Noonan syndrome 3, KRAS Cardiofaciocutaneous syndrome)
RAB: RAB7 (Charcot–Marie–Tooth disease) · RAB23 (Carpenter syndrome) · RAB27 (Griscelli syndrome type 2)
RHO: RAC2 (Neutrophil immunodeficiency syndrome)
ARF: SAR1B (Chylomicron retention disease) ARL13B (Joubert syndrome 8) · ARL6 (Bardet–Biedl syndrome 3)
MAP kinase Other kinase/phosphatase BTK (X-linked agammaglobulinemia) · ZAP70 (ZAP70 deficiency)
RPS6KA3 (Coffin-Lowry syndrome) · CHEK2 (Li-Fraumeni syndrome 2) · IKBKG (Incontinentia pigmenti) · STK11 (Peutz–Jeghers syndrome) · DMPK (Myotonic dystrophy 1) · ATR (Seckel syndrome 1) · GRK1 (Oguchi disease 2) · WNK4/WNK1 (Pseudohypoaldosteronism 2)
PTEN (Bannayan–Riley–Ruvalcaba syndrome, Lhermitte–Duclos disease, Cowden syndrome, Proteus-like syndrome) · MTM1 (X-linked myotubular myopathy) · PTPN11 (Noonan syndrome 1, LEOPARD syndrome, Metachondromatosis)
Signal transducing adaptor proteins Other NF2 (Neurofibromatosis type II) · NOTCH3 (CADASIL) · PRKAR1A (Carney complex) · PRKAG2 (Wolff–Parkinson–White syndrome) · PRKCSH (PRKCSH Polycystic liver disease) · XIAP (XIAP2)
see also intracellular signaling peptides and proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfkCategories:
- Autosomal recessive disorders
- Rare diseases
- Visual disturbances and blindness
- Genetic disorder stubs
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