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Article

Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations.

Ophthalmic genetics - 1 Jun 2016

Bonilha Vera L, Rayborn Mary E, Bell Brent A, Marino Meghan J, Fishman Gerald A, Hollyfield Joe G

Abstract excerpt

BACKGROUND: The goal of this study was to define the histopathology of the retina in donor eyes from a patient with Stargardt disease (STGD1) due to compound mutations in the ABCA4 gene. MATERIALS AND METHODS: Eyes were obtained from a 66-year-old female and fixed within 18 hours postmortem. The fundi of the posterior globes were evaluated with macroscopic, SLO and OCT imaging. The perifoveal and peripheral...

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Source

Identifiers

PMID: 25265374
DOI: 10.3109/13816810.2014.958861

Genes

RPE
GFAP
ABCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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