Sorsby's fundus dystrophy (DOID:0090114)
Alliance: disease page
Synonyms: hemorrhagic macular dystrophy; pseudoinflammatory fundus dystrophy of Sorsby; SFD
Alt IDs: OMIM:136900
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.