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

doi:10.1167/iovs.13-13391

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

Topics Community

Back to search

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....

Topics

ATP-Binding Cassette Transporters
Adolescent
Adult
Alleles
Child
Choroid
DNA
DNA Mutational Analysis
Female
Fluorescein Angiography
Follow-Up Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Fundus Oculi

Genotype

Humans

Macular Degeneration

Male

Middle Aged

Mutation

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 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

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.