Term Name: Sorsby's fundus dystrophy
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 )

Relationships
is a type of: autosomal dominant disease hereditary retinal dystrophy