ArticleThe British journal of ophthalmology2003
Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.
Article in The British journal of ophthalmology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 41 citations in OpenAlex.
- Recovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Trial
- Determining Genetic Cause of Posterior Staphylomas in Eyes with Pathologic Myopia by Whole Exome Sequencing.Ophthalmology science · 2026Article
- Review
- Treatment Potential for LCA5-Associated Leber Congenital Amaurosis.Investigative ophthalmology & visual science · 2020Article
- Voretigene Neparvovec and Gene Therapy for Leber's Congenital Amaurosis: Review of Evidence to Date.The application of clinical genetics · 2020Review
- Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Article
- A mutation in IFT43 causes non-syndromic recessive retinal degeneration.Human molecular genetics · 2017Article
- Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.Documenta ophthalmologica. Advances in ophthalmology · 2014Article
- Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.Human mutation · 2013Article
- Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts.Molecular vision · 2011Article
- Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.Molecular vision · 2009Article
- Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.Molecular vision · 2008Article
- Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
backgroundLeber's congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist. Mutations have been described in the RPE65, CRB1, RPGRIP1, AIPL1, GUCY2D, and CRX genes and other pedigrees show linkage to the LCA3 and LCA5 loci. The latter is a new locus which maps to 6q11-q16. The ocular findings and the evolution of the macula staphyloma are described in five members of a Pakistani family with consanguinity and a mutation in the LCA5 gene.
methods13 family members including five affected individuals consented to DNA analysis and ocular examination including fundal photography.
resultsOcular abnormalities are described. The most striking feature was the progression of macula abnormalities in three brothers resulting in a colobomatous appearance in the eldest compared to only mild atrophy in the youngest. The phenotypic pattern of this mutation in this Pakistani family contrasts with the "Old Order River Brethren" who were of Swiss descent, in whom the mutation was first described.
conclusionThe evolution of a new phenotypic picture is presented to a mutation in LCA5.
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