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

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

Abstract 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...

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Main Authors: Avril Watson, Rachel Queen, Luis Ferrández-Peral, Birthe Dorgau, Joseph Collin, Andrew Nelson, Rafiqul Hussain, Jonathan Coxhead, Michael McCorkindale, Robert Atkinson, Darin Zerti, Valeria Chichagova, Ana Conesa, Lyle Armstrong, Frans P. M. Cremers, Majlinda Lako
Format: Article
Language:English
Published: Nature Publishing Group 2025-02-01
Series:Cell Death and Disease
Online Access:https://doi.org/10.1038/s41419-025-07420-7
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https://doi.org/10.1038/s41419-025-07420-7

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