PAX6 and foveal hypoplasia 1: Differential diagnoses includes autosomal dominant foveal hypoplasia-1 (FVH1, OMIM #136520), also referred to as foveal hypoplasia-1 with or without anterior segment anomalies and/or cataract, which is caused by heterozygous missense variants in the PAX6 gene on chromosome 11p13 [19,20].