MONDO:0018998

released
Term Name
Leber congenital amaurosis
External Reference
Synonyms
Leber's amaurosis, Leber congenital amaurosis, LCA, amaurosis congenita of Leber, Leber's congenital amaurosis, Leber's disease
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.