Leber congenital amaurosis 1

info · Eye · ICD-10: H35.5

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.

Signs and symptoms

Nystagmus
Reduced visual acuity
Keratoconus
Atrophic fundus lesion
Hyperthreoninemia
Pigmentary retinopathy
Hyperthreoninuria
Hepatomegaly
Cataract
Sensorineural hearing impairment

Also known as: LCA1; amaurosis congenita of Leber I