KEGG   DISEASE: Sorsby fundus dystrophy
Entry
H00732                      Disease                                
Name
Sorsby fundus dystrophy
Description
Sorsby fundus dystrophy is an autosomal dominant disorder characterized by macular degeneration with bilateral central visual loss. The lesions progress into outer retina, resulting in further loss of peripheral vision. The onset is usually in the third to fifth decade of life. The tissue inhibitor of metalloproteinase 3 (TIMP3) is associated with the disease.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the choroid
    9B61  Choroidal dystrophy
     H00732  Sorsby fundus dystrophy
Gene
TIMP3 [HSA:7078] [KO:K16866]
Other DBs
ICD-11: 9B61
MeSH: C564992
OMIM: 136900
Reference
PMID:2695876
  Authors
Hamilton WK, Ewing CC, Ives EJ, Carruthers JD
  Title
Sorsby's fundus dystrophy.
  Journal
Ophthalmology 96:1755-62 (1989)
DOI:10.1016/S0161-6420(89)32647-9
Reference
  Authors
Weisinger HS, Pesudovs K
  Title
Sorsby's fundus dystrophy.
  Journal
Optometry 72:435-40 (2001)
Reference
PMID:1559761
  Authors
Steinmetz RL, Polkinghorne PC, Fitzke FW, Kemp CM, Bird AC
  Title
Abnormal dark adaptation and rhodopsin kinetics in Sorsby's fundus dystrophy.
  Journal
Invest Ophthalmol Vis Sci 33:1633-6 (1992)
Reference
  Authors
Musarella MA
  Title
Molecular genetics of macular degeneration.
  Journal
Doc Ophthalmol 102:165-77 (2001)
DOI:10.1023/a:1017510515893
Reference
  Authors
Li Z, Clarke MP, Barker MD, McKie N
  Title
TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights.
  Journal
Expert Rev Mol Med 7:1-15 (2005)
DOI:10.1017/S1462399405010045
LinkDB

» Japanese version

DBGET integrated database retrieval system