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Article

Unravelling genotype-phenotype correlations in Stargardt disease using patient-derived retinal organoids.

Cell death & disease - 19 Feb 2025

Watson Avril, Queen Rachel, Ferrández-Peral Luis, Dorgau Birthe, Collin Joseph, Nelson Andrew, Hussain Rafiqul, Coxhead Jonathan, McCorkindale Michael, Atkinson Robert, Zerti Darin, Chichagova Valeria, Conesa Ana, Armstrong Lyle, Cremers Frans P M, Lako Majlinda

Abstract excerpt

Stargardt disease is an inherited retinopathy affecting approximately 1:8000 individuals. It is characterised by biallelic variants in ABCA4 which encodes a vital protein for the recycling of retinaldehydes in the retina. Despite its prevalence and impact, there are currently no treatments available for this condition. Furthermore, 35% of STGD1 cases remain genetically unsolved. To investigate the cellular and...

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Identifiers

PMID: 39971915
DOI: 10.1038/s41419-025-07420-7
PMCID: PMC11840025

Genes

ABCA4
OPN1MW

Provenance

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