has material basis in autosomal dominant disease foveal hypoplasia 1 GARD:406 disease_ontology A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. MIM:136520 FVH1 MIM:136520 ORDO:2253 DOID:0070530 PAX6 gene variation results in a number of eye diseases, including aniridia 1, that are primarily distinguished by phenotype. These phenotypes may correspond to different variants but there is not definitive evidence at this time to clearly define them all. O'Donnell-Pappas syndrome/foveal hypoplasia-presenile cataract syndrome refers to the subset of FVH1 with presenile cataract. This characteristic is not sufficient for distinction from FVH1 at this time [JAB, 2024-01-23]. UMLS_CUI:C2931644 O'Donnell-Pappas syndrome foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract foveal hypoplasia-presenile cataract syndrome retinal disease autosomal dominant inheritance