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LEBER CONGENITAL AMAUROSIS 6 (disorder)

Known as: LCA6, Leber Congenital Amaurosis 6 
National Institutes of Health

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2 relations

Broader (1)

Leber Congenital Amaurosis
RPGRIP1 gene

Papers overview

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2020
2020
Novel mutation identified in Leber congenital amaurosis - a case report
Background Leber congenital amaurosis (LCA) is the earliest onset and the most severe form of all inherited retinal degenerative… 
2013
2013
Identification of a Novel LCA6 Mutation in an Emirati Family
ABSTRACT Purpose: To determine the cause of Leber congenital amaurosis (LCA) in a consanguineous Emirati family. Methods: The… 
2006
2006
Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.
Leber congenital amaurosis (LCA) is the most early and severe form of all inherited retinal dystrophies, responsible for… 
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