foveal hypoplasia 1 (DOID:0070530)
Alliance: disease page
Synonyms: foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract; foveal hypoplasia-presenile cataract syndrome; FVH1; O'Donnell-Pappas syndrome
Alt IDs: OMIM:136520
Definition: 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.