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 gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review.

Ophthalmic genetics - 1 Jun 2003

Koenekoop Robert K

Abstract excerpt

The gene ABCA4 encodes the rod and cone photoreceptor Rim protein, which is a transmembrane transporter of vitamin A intermediates. ABCA 4 mutations are responsible for a large variety of retinal degenerations including all cases of Stargardt macular dystrophy and fundus flavimaculatus, some forms of cone-rod degeneration, and retinitis pigmentosa, and likely increase the risk of developing age-related macular...

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 Disease Models, Animal
Share to Fundus Oculi

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Macular Degeneration

Share to Retinal Degeneration

Share to Retinitis Pigmentosa

Share to Rod Cell Outer Segment

Source

Identifiers

PMID: 12789571
DOI: 10.1076/opge.24.2.75.13996

Genes

ABCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review.PMID 12789571Read ↗

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.Semantic proximity Read ↗

Emerging Therapeutic Approaches and Genetic Insights in Stargardt Disease: A Comprehensive Review.Semantic proximity Read ↗

The ABCs of Stargardt disease: the latest advances in precision medicineSemantic proximity Read ↗

Stargardt-Fundus Flavimaculatus: Recent Advancements and TreatmentSemantic proximity Read ↗

Stargardt's disease and the ABCR gene.Semantic proximity Read ↗

Stargardt’s Disease: Molecular Pathogenesis and Current Therapeutic LandscapeSemantic proximity Read ↗

Structure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration.Semantic proximity Read ↗

Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.Semantic proximity Read ↗

Abca4 inhibition in a cone-rich rodent leads to Stargardt Disease type 1-like retinal degenerationSemantic proximity Read ↗

Expression of ABCA4 in the retinal pigment epithelium and its implications for Stargardt macular degenerationSemantic proximity Read ↗

Loss of retinal stem cell reserve and lipofuscin accumulation accelerates cone-rod degeneration and replicates Stargardt disease in abca4b null zebrafishSemantic proximity Read ↗

ATP-binding cassette transporter ABCA4: molecular properties and role in vision and macular degeneration.Semantic proximity Read ↗

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