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Article

The genetic profile of Leber congenital amaurosis in an Australian cohort.

Molecular genetics & genomic medicine - 1 Nov 2017

Thompson Jennifer A, De Roach John N, McLaren Terri L, Montgomery Hannah E, Hoffmann Ling H, Campbell Isabella R, Chen Fred K, Mackey David A, Lamey Tina M

Abstract excerpt

BACKGROUND: Leber congenital amaurosis (LCA) is a severe visual impairment responsible for infantile blindness, representing ~5% of all inherited retinal dystrophies. LCA encompasses a group of heterogeneous disorders, with 24 genes currently implicated in pathogenesis. Such clinical and genetic heterogeneity poses great challenges for treatment, with personalized therapies anticipated to be the best treatment...

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Identifiers

PMID: 29178642
DOI: 10.1002/mgg3.321
PMCID: PMC5702575

Genes

NMNAT1

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