Human genes for Sorsby's fundus dystrophy
Sorsby's fundus dystrophy [DOID:0090114]
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: Sorsby's fundus dystrophy, DOID:0090114, Sorsbys fundus dystrophy, hemorrhagic macular dystrophy, pseudoinflammatory fundus dystrophy of Sorsby ...