Leber congenital amaurosis 4

Term ID

DOID:0110332

Synonyms

• LCA4

Definition

A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/10615133

References

• ICD10CM:H35.5
• MESH:C565778
• OMIM:604393

Ontology

Human Disease   ( DOID:0110332 )