Leber congenital amaurosis 10

info · Genetic · ICD-10: H35.5

A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32.

Signs and symptoms

Seizure
Hyposmia
Visual impairment

Also known as: LCA10