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

Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

Investigative ophthalmology & visual science - 29 Apr 2014

Bertelsen Mette, Zernant Jana, Larsen Michael, Duno Morten, Allikmets Rando, Rosenberg Thomas

Abstract excerpt

PURPOSE: We describe a particular form of autosomal recessive generalized choriocapillaris dystrophy phenotype associated with ABCA4 mutations. METHODS: A cohort of 30 patients with identified ABCA4 mutations and a distinct phenotype was studied. A retrospective review of history, fundus photographs, electroretinography, visual field testing, dark adaptometry, and optical coherence tomography was performed....

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 Choroid

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

Share to Fluorescein Angiography

Share to Follow-Up Studies

Share to Fundus Oculi

Share to Macular Degeneration

Share to Time Factors

Share to Tomography, Optical Coherence

Source

Open in PubMed Open full text

Identifiers

PMID: 24713488
DOI: 10.1167/iovs.13-13391
PMCID: PMC4005615

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

Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.PMID 24713488Read ↗

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.Semantic proximity Read ↗

Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies.Semantic proximity Read ↗

The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.Semantic proximity Read ↗

Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies.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 ↗

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.Semantic proximity Read ↗

Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.Semantic proximity Read ↗

Clinical Observation and Genotype-Phenotype Analysis of ABCA4- Related Hereditary Retinal Degeneration before Gene Therapy.Semantic proximity Read ↗

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

Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.Semantic proximity Read ↗

Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.Semantic proximity Read ↗

ABCA4-Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants.Semantic proximity Read ↗

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