foveal hypoplasia 1

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.

Signs and symptoms

• Congenital nystagmus
• Presenile cataracts
• Hypoplasia of the fovea
• Visual impairment

Also known as: FVH1; foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract