| Metadata | |
|---|---|
| ID | DOID:0090114 |
| Name | Sorsby's fundus dystrophy |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/26077580, https://www.ncbi.nlm.nih.gov/pubmed/26239453, https://www.omim.org/entry/136900 |
| Xrefs | |
| Synonyms |
hemorrhagic macular dystrophy [EXACT] pseudoinflammatory fundus dystrophy of Sorsby [EXACT] SFD [EXACT] |
| Parent Relationships |