Leber congenital amaurosis 8

info · Eye · ICD-10: H35.5

A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32.

Signs and symptoms

Eye poking
Reduced visual acuity
Nystagmus
High hypermetropia
Nummular pigmentation of the retina
Undetectable electroretinogram
Deeply set eye
Cataract
Choriocapillaris atrophy
Pigmentary retinopathy

Also known as: LCA8