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

Visual improvement in Leber congenital amaurosis and the CRX genotype.

Ophthalmic genetics - 1 Mar 2002

Koenekoop Robert K, Loyer Magali, Dembinska Olga, Beneish Raquel

Abstract excerpt

PURPOSE: In order to determine genotype-phenotype correlations in Leber congenital amaurosis (LCA), we analyzed the phenotype and genotype of 250 LCA children. We identified a heterozygous CRX mutation in an affected mother and son, and describe the ocular phenotype of the proband from birth through infancy to age 11 years. METHODS: Best-corrected Snellen visual acuities, electroretinograms (ERGs), and Goldmann...

Read the complete abstract on PubMed

Topics

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

Share to Blindness
Share to Electroretinography
Share to Frameshift Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Optic Atrophy, Hereditary, Leber

Share to Polymorphism, Single-Stranded Conformational

Share to Visual Acuity

Share to Visual Field Tests

Share to Visual Fields

Source

Identifiers

PMID: 11910559
DOI: 10.1076/opge.23.1.49.2200

Genes

CRX

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

Visual improvement in Leber congenital amaurosis and the CRX genotype.PMID 11910559Read ↗

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

Leber congenital amaurosis: a genetic paradigm.Semantic proximity Read ↗

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

Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.Semantic proximity Read ↗

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

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 ↗

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

A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility.Semantic proximity Read ↗

Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.Semantic proximity Read ↗

Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.Semantic proximity Read ↗

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

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