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GTR Home > Conditions/Phenotypes > Leber congenital amaurosis 9

Leber congenital amaurosis 9

Synonyms
Amaurosis congenita of Leber, type 9; LCA 9; LCA9 Leber Congenital Amaurosis

Summary

Early-onset neurodegeneration in the human retina can lead to Leber congenital amaurosis (LCA), the most severe human form of inherited photoreceptor-neuron degeneration resulting in congenital blindness, with an incidence of approximately 1 in 80,000 (summary by Koenekoop et al., 2012). NMNAT1 mutations have been observed to cause severe and rapidly progressive macular degeneration, leading to severe central atrophy with an appearance of congenital macular coloboma in the neonatal period, as well as an unusual early-onset atrophy of the optic nerve (Perrault et al., 2012). Some patients present with later onset and milder phenotype than typical LCA (Kumaran et al., 2021). For a general discussion of the phenotypic and genetic heterogeneity in Leber congenital amaurosis, see LCA1 (204000). [from OMIM]

Available tests

23 tests are in the database for this condition.

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Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LCA9, NMNAT, PNAT1, SHILCA, NMNAT1
    Summary: nicotinamide nucleotide adenylyltransferase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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