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

19 Feb 2025

Abstract excerpt

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 available for this condition. Furthermore, 35% of STGD1 cases remain genetically unsolved. To investigate the...

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

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