Leber congenital amaurosis
MONDO:0018998Also known as: Leber congenital amaurosis, amaurosis congenita of Leber, Leber's congenital tapetoretinal degeneration, Leber's congenital tapetoretinal dysplasia, congenital absence of the rods and cones
- MONDO:
- MONDO:0018998
- Orphanet:
- 65 ↗
Rare disease55 associated genes
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.
Associated genes
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