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 Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

Ophthalmology - 1 Jan 2018

Tanaka Koji, Lee Winston, Zernant Jana, Schuerch Kaspar, Ciccone Lyam, Tsang Stephen H, Sparrow Janet R, Allikmets Rando

Abstract excerpt

PURPOSE: To characterize patients affected by a uniquely severe, rapid-onset chorioretinopathy (ROC) phenotype of ABCA4 disease. DESIGN: Comparative cohort study. PARTICIPANTS: Sixteen patients were selected from a large clinically diagnosed and genetically confirmed cohort (n = 300) of patients diagnosed with ABCA4 disease. MAIN OUTCOME MEASURES: Phenotypic characteristics were assessed on color fundus...

Read the complete abstract on PubMed

Topics

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

Share to Electroretinography
Share to Fluorescein Angiography

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

Share to Fundus Oculi

Share to Macular Degeneration

Share to Retinal Pigment Epithelium

Share to Rod Cell Outer Segment

Share to Stargardt Disease

Share to Tomography, Optical Coherence

Source

Open in PubMed Open full text

Identifiers

PMID: 28947085
DOI: 10.1016/j.ophtha.2017.07.019
PMCID: PMC5846118

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 Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.PMID 28947085Read ↗

Homozygous initiation codon-altering complex variant causes rapid-onset chorioretinopathy phenotype in ABCA4 disease.Semantic proximity Read ↗

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

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

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

Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.Semantic proximity Read ↗

Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 DiseaseSemantic proximity Read ↗

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

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

Early-onset stargardt disease: phenotypic and genotypic characteristics.Semantic proximity Read ↗

PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural History.Semantic proximity Read ↗

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