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

The clinical effect of homozygous ABCA4 alleles in 18 patients.

Ophthalmology - 1 Nov 2013

Fujinami Kaoru, Sergouniotis Panagiotis I, Davidson Alice E, Mackay Donna S, Tsunoda Kazushige, Tsubota Kazuo, Robson Anthony G, Holder Graham E, Moore Anthony T, Michaelides Michel, Webster Andrew R

Abstract excerpt

PURPOSE: To describe the phenotypic presentation of a cohort of individuals with homozygous disease-associated ABCA4 variants. DESIGN: Retrospective case series. PARTICIPANTS: Eighteen affected individuals from 13 families ascertained from a total cohort of 214 families with ABCA4-related retinal...

Read the complete abstract on PubMed

Topics

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

Share to ATP-Binding Cassette Transporters
Share to Electroretinography
Share to Fluorescein Angiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Macular Degeneration

Share to Photoreceptor Cells, Vertebrate

Share to Stargardt Disease

Share to Tomography, Optical Coherence

Share to Visual Acuity

Source

Identifiers

PMID: 23769331
DOI: 10.1016/j.ophtha.2013.04.016

Genes

ABCA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23769331-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The clinical effect of homozygous ABCA4 alleles in 18 patients.PMID 23769331Read ↗

Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.Semantic proximity Read ↗

Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.Semantic proximity Read ↗

Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.Semantic proximity Read ↗

Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.Semantic proximity Read ↗

Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.Semantic proximity Read ↗

Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy.Semantic proximity Read ↗

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.Semantic proximity Read ↗

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variantsSemantic proximity Read ↗

ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage.Semantic proximity Read ↗

In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.Semantic proximity Read ↗

Genotypic and Phenotypic Insights on 11 Novel Variants in the ABCA4 Gene.Semantic proximity Read ↗

Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.Semantic proximity Read ↗

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