Leber congenital amaurosis 1

Term ID

DOID:0110078

Synonyms

• amaurosis congenita of Leber I
• LCA1

Definition

A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/8944027

References

• ICD10CM:H35.5
• OMIM:204000

Ontology

Human Disease   ( DOID:0110078 )