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 available for this condition. Furthermore, 35% of STGD1 cases remain genetically unsolved. To investigate the cellular and molecular characteristics associated with STGD1, we generated iPSCs from two monoallelic unresolved (PT1 & PT2), late-onset STGD1 cases with the heterozygous complex allele - c.[5461-10 T > C;5603 A > T]. Both patient iPSCs and those from a biallelic affected control (AC) carrying -c.4892 T > C and c.4539+2001G > A, were differentiated to retinal organoids, which developed all key re

SUBMITTER: Watson A 

PROVIDER: S-EPMC11840025 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature