ArticleCell death & disease2025
Unravelling genotype-phenotype correlations in Stargardt disease using patient-derived retinal organoids.
Article in Cell death & disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Loss of ABCA4 from photoreceptor discs is associated with glial transcriptomic changes in retinal organoids.Stem cells (Dayton, Ohio) · 2026Article
- Current Advances and Applications of Retinal Organoids.Neuroscience bulletin · 2026Review
- Engineering Human Retinal Organoids and Eye-on-a-Chip Models for Degenerative Eye Disease.ACS biomaterials science & engineering · 2026Review
- Single-Cell Transcriptomics in Inherited Retinal Dystrophies: Current Findings and Emerging Perspectives.Genes · 2025Review
- Investigation of ABCA4 Missense Variants and Potential Small Molecule Rescue in Retinal Organoids.Investigative ophthalmology & visual science · 2025Article
- Induced Pluripotent (iPSC) and Mesenchymal (MSC) Stem Cells for In Vitro Disease Modeling and Regenerative Medicine.International journal of molecular sciences · 2025Review
- Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.BMC ophthalmology · 2025Article
Corrections and comments
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Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
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 retinal neurons and photoreceptors with outer segments positive for ABCA4 expression. We observed patient-specific disruption to lamination with OPN1MW/LW
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