Oguchi disease

Oguchi disease
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.

Contents

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

  1. ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 258100
  2. ^ 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
  3. ^ Hartnett, Mary Elizabeth; Antonio Capone, Michael Trese (2004). Pediatric Retina: Medical and Surgical Approaches Guide to Rare Disorders. Lippincott Williams & Wilkins. ISBN 978-0781747820. 
  4. ^ "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

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), trfk
v · 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
MAP kinase
Other kinase/phosphatase
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), trfk



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