Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Leber congenital amaurosis: a genetic paradigm.

Ophthalmic genetics - 1 Jun 2004

Allikmets Rando

Abstract excerpt

Leber congenital amaurosis (LCA; estimated prevalence 1 : 50,000-100,000) is an early-onset inherited cause of childhood blindness characterized by a severe retinal dystrophy immediately after birth. Variants in at least six genes, AIPL1, CRB1, CRX, GUCY2D, RPE65, and RPGRIP1, have been associated with a diagnosis consistent with LCA or early-onset retinitis pigmentosa and together account for less than 50% of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blindness
Share to Eye Proteins
Share to CRX gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Molecular Biology

Share to Mutation

Share to Oligonucleotide Array Sequence Analysis

Share to Retinal Degeneration

Source

Identifiers

PMID: 15370538
DOI: 10.1080/13816810490514261

Genes

AIPL1
CRB1
CRX
RPE65
RPGRIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Leber congenital amaurosis: a genetic paradigm.PMID 15370538Read ↗

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.Semantic proximity Read ↗

[From gene to disease; Leber congenital amaurosis (LCA)].Semantic proximity Read ↗

Molecular genetics of Leber congenital amaurosis.Semantic proximity Read ↗

Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.Semantic proximity Read ↗

Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center.Semantic proximity Read ↗

Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine.Semantic proximity Read ↗

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).Semantic proximity Read ↗

Evaluation of genotype-phenotype associations in leber congenital amaurosis.Semantic proximity Read ↗

Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.Semantic proximity Read ↗

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.Semantic proximity Read ↗

Clinical phenotypes in carriers of Leber congenital amaurosis mutations.Semantic proximity Read ↗

Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.