FAQ

LEBER CONGENITAL AMAUROSIS 5

Known as: Amaurosis congenita of Leber, type 5, LCA5, Leber congenital amaurosis, type 5 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1987-2018
02419872018

Related topics

Related topics

2 relations
LCA5 gene

Broader (1)

Leber Congenital Amaurosis

Related mentions per year

Related mentions per year

1949-2018
19401960198020002020
LEBER CONGENITAL AMAUROSIS 5
Leber Congenital Amaurosis
LCA5 gene

Papers overview

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Review
2014
Review
2014
Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
OBJECTIVE We aimed to identify novel genetic defects in the LCA5 gene underlying Leber congenital amaurosis (LCA) in the Spanish… (More)
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Review
2013
Review
2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
This study was undertaken to investigate the prevalence of sequence variants in LCA5 in patients with Leber congenital amaurosis… (More)
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2011
2011
A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing.
COMMUNICATION We identified a 28-year-old cognitively normal patient with severe visual loss, absent electrical signals from the… (More)
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2010
2010
Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.
OBJECTIVES To report the genetic basis of Leber congenital amaurosis (LCA) in northern Pakistan and to describe the phenotype… (More)
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2010
2010
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis.
 
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2010
2010
Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA).
 
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2009
2009
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization
PURPOSE To determine the retinal disease expression in the rare form of Leber congenital amaurosis (LCA) caused by Lebercilin… (More)
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2009
2009
LCA5, a rare genetic cause of leber congenital amaurosis in Koreans.
PURPOSE Leber congenital amaurosis (LCA), the most severe form of inherited retinal dystrophy, is a genetically heterogenous… (More)
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2008
2008
Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis
PURPOSE Leber congenital amaurosis (LCA) is one of the most common causes of hereditary blindness in infants. To date, mutations… (More)
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2007
2007
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.
Leber congenital amaurosis (LCA) is the earliest and most severe form of inherited retinal dystrophy responsible for blindness or… (More)
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