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Leber congenital amaurosis

rare

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.

Identifiers
MONDO:0018998 Orphanet:65
Part of
Congenital nervous system disorderInherited retinal dystrophy
Also known as
amaurosis congenita of Leber · congenital absence of the rods and cones · congenital retinal blindness · Leber's congenital tapetoretinal degeneration · Leber's congenital tapetoretinal dysplasia

Subtypes

All diseases Rare only
Disease Subtypes
Leber congenital amaurosis 1
Leber congenital amaurosis 10
Leber congenital amaurosis 11
Leber congenital amaurosis 12
Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 17
Leber congenital amaurosis 18
Leber congenital amaurosis 19
Leber congenital amaurosis 2
Leber congenital amaurosis 3
Leber congenital amaurosis 4
Leber congenital amaurosis 5
Leber congenital amaurosis 6
Leber congenital amaurosis 7
Leber congenital amaurosis 8
Leber congenital amaurosis 9
Leber congenital amaurosis with early-onset deafness
Retinal aplasia
Retinitis pigmentosa 7

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