Leber congenital amaurosis 2

info · Eye · ICD-10: H35.5

A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1.

Signs and symptoms

Nyctalopia
Nystagmus
Reduced visual acuity
Undetectable light- and dark-adapted electroretinogram
Attenuation of retinal blood vessels
Optic disc pallor
Cerebellar vermis hypoplasia
Eye poking
Pigmentary retinopathy
Blindness

Also known as: LCA2; amaurosis congenita of Leber II