Term Name: | Sorsby's fundus dystrophy |
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Synonyms: | hemorrhagic macular dystrophy, pseudoinflammatory fundus dystrophy of Sorsby, SFD |
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. |
Ontology: | Human Disease [DOID:0090114] ( DOID:0090114 ) |