has material basis in germline mutation in TEAD1 helicoid peripapillary chorioretinal degeneration https://www.malacards.org/card/sveinsson_chorioretinal_atrophy GARD:0016757 MESH:C566236 atrophia areata UMLS:C1862382 SCRA MONDO:0007176 Orphanet:86813 SCTID:724384008 MEDGEN:354733 icd11.foundation:896652469 DOID:0111228 OMIM:108985 Sveinsson chorioretinal atrophy SVEINSSON chorioretinal atrophy Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease. inherited retinal dystrophy