Leber congenital amaurosis
Leber congenital amaurosis
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.
Also known as amaurosis congenita of Leber, Leber congenital amaurosis — per MONDO