Term Name: | Sveinsson chorioretinal atrophy |
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Synonyms: | atrophia areata, helicoid peripapillary chorioretinal degeneration, HPCD, peripapillary chorioretinal degeneration, Icelandic type, SCRA |
Definition: | An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3. |
Ontology: | Human Disease [DOID:0111228] ( DOID:0111228 ) |