foveal hypoplasia 1

Term ID

DOID:0070530

Synonyms

• foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract
• foveal hypoplasia-presenile cataract syndrome
• FVH1
• O'Donnell-Pappas syndrome

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. (5)

References

• OMIM:136520

Ontology

Human Disease   ( DOID:0070530 )