Version: 8.0.0
Date: Tue Jan 28 2025
Sorsby's fundus dystrophy
DOID:0090114
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Sorsby's fundus dystrophy

Definition
A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12.
Synonyms
  • hemorrhagic macular dystrophy
  • pseudoinflammatory fundus dystrophy of Sorsby
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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