Leber congenital amaurosis

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Name:
Leber congenital amaurosis
Description:
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.
ORPHAcode:
65
Synonyms:
Amaurosis congenita of Leber
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14