The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

doi:10.1016/j.ophtha.2017.07.019

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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...

Topics

ATP-Binding Cassette Transporters
Adolescent
Adult
Child
DNA
DNA Mutational Analysis
Disease Progression
Electroretinography
Female
Fluorescein Angiography
Fundus Oculi

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Macular Degeneration

Male

Mutation

Phenotype

Retinal Pigment Epithelium

Rod Cell Outer Segment

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 31 Aug 2026.

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