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

doi:10.1007/s10633-025-10074-7

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

Documenta ophthalmologica. Advances in ophthalmology - 1 Aug 2026

Sbaiti Naeem, Kong Maximilian D, Bailey Johnathan A, Exinor Abdhel, Tsang Stephen H

Abstract excerpt

PURPOSE: To characterize the clinical phenotype associated with a homozygous start codon-altering complex variant in the ABCA4 gene and evaluate its severity and prognosis in the context of Stargardt disease. METHODS: Patient records were retrospectively reviewed for homozygous ABCA4 start codon variants. Patients underwent ophthalmic exam, multimodal imaging, full-field electroretinography (ffERG), and inherited...

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ATP-Binding Cassette Transporters
Codon, Initiator
Electroretinography
Fluorescein Angiography
Macular Degeneration
Stargardt Disease

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tomography, Optical Coherence

Visual Acuity

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Open in PubMed

Identifiers

PMID: 41526563
DOI: 10.1007/s10633-025-10074-7

Genes

ABCA4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.