Sorsby's fundus dystrophy

Term ID

DOID:0090114

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. (3)

References

• OMIM:136900

Ontology

Human Disease   ( DOID:0090114 )