/Leber congenital amaurosis

Leber congenital amaurosis

Rare Disease

MONDO:0018998

Also Known As

LCALeber congenital amaurosisLeber's amaurosisLeber's congenital amaurosisLeber's diseaseamaurosis congenita of LeberLeber's congenital tapetoretinal degenerationLeber's congenital tapetoretinal dysplasiacongenital absence of the rods and conescongenital retinal blindness

Definition

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.