Evidence map›Paper›PMID 41526563›Full record

ArticleDocumenta ophthalmologica. Advances in ophthalmology2026

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

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

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In one paragraph

Article in Documenta ophthalmologica. Advances in ophthalmology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Naeem SbaitiDepartment of Ophthalmology, Vagelos College of Physicians and Surgeons, Vanderbilt Clinic, Columbia University Irving Medical Center, 622 W 168 St 3rd Floor, New York, NY, 10032, USA.
Maximilian D KongJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Inst of Human Nutrition, Columbia Stem Cell Initiative, New York, NY, USA.
Johnathan A BaileyDepartment of Ophthalmology, Vagelos College of Physicians and Surgeons, Vanderbilt Clinic, Columbia University Irving Medical Center, 622 W 168 St 3rd Floor, New York, NY, 10032, USA.
Abdhel ExinorJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Inst of Human Nutrition, Columbia Stem Cell Initiative, New York, NY, USA.
Stephen H TsangJonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Inst of Human Nutrition, Columbia Stem Cell Initiative, New York, NY, USA. sht2@cumc.columbia.edu.ORCID http://orcid.org/0000-0001-9082-2427

Funding

Foundation Fighting Blindness TA-GT-0321-0802-COLU-TRAPNIH HHS 1R01EY018213NIH HHS 1R01EY024698NIH HHS 1R01EY033770NIH HHS 1R24EY027285NIH HHS 1R24EY028758NIH HHS 1U01EY030580NIH HHS 1U01EY034590Research to Prevent Blindness Physician Scientist Award
6 · The paper itself

Abstract

purposeTo 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.

methodsPatient records were retrospectively reviewed for homozygous ABCA4 start codon variants. Patients underwent ophthalmic exam, multimodal imaging, full-field electroretinography (ffERG), and inherited retinal disease panel testing. Structural and functional retinal assessments were reviewed to determine phenotype severity.

resultsThree brothers of Ashkenazi Jewish descent presented with profound early-onset vision loss beginning at age 7, with best-corrected visual acuity reduced to counting fingers or hand motion by early adulthood. Imaging revealed widespread macular atrophy, extensive intraretinal pigment migration, and near-complete foveal outer nuclear layer loss. ffERG demonstrated extinguished scotopic and photopic responses. The patients were found to be homozygous for a complex ABCA4 allele containing the start codon variant c.[1A > G;6089G > A]. These features were consistent with the rapid-onset chorioretinopathy phenotype, previously associated with null ABCA4 alleles.

conclusionsThis report characterizes the clinical findings in patients homozygous for the c.[1A > G;6089G > A] variant in ABCA4, confirming its association with a severe, rapid-onset chorioretinopathy phenotype. The data support the pathogenic nature of this complex allele and expands the genotype-phenotype correlational spectrum of ABCA4-related disease, with implications for prognosis and genetic counseling.

Indexed as

ATP-Binding Cassette TransportersCodon, InitiatorDNAMacular DegenerationMutationChildDNA Mutational AnalysisElectroretinographyFluorescein AngiographyHomozygoteHumansMalePedigreePhenotypeRetrospective StudiesStargardt DiseaseABCA4 protein, humanATP-Binding Cassette TransportersCodon, InitiatorDNAABCA4Electroretinogram (ERG)Genotype–phenotype correlationMacular atrophyPigment migrationRapid-onset chorioretinopathyStargardt diseaseStart codon variant

Identifiers

PMID41526563

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