A 3D human retina model reveals a non-cell-autonomous and non-neuronal mechanism of photoreceptor loss in a lysosomal storage disorder.

doi:10.1126/scitranslmed.ady7616

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A 3D human retina model reveals a non-cell-autonomous and non-neuronal mechanism of photoreceptor loss in a lysosomal storage disorder.

Science translational medicine - 26 Aug 2026

Han Jimin, Foley Nathaniel, Dalvi Sonal, Tang Janet A H, Emira Dogrul Fesahat, Chatterjee Amit, Kumar Lal Krishan, Galloway Chad A, Singh Ajay Kumar, Stein Leah M, Subedi Yashoda, Kevin C Ling, Heffer Alison, He Xingxuan, Gullapalli Vamsi K, Johnson Brent A, Libby Richard T, Benoit Danielle S W, Cook Anthony L, Bonilha Vera L, Schuchman Edward H, Hunter Jennifer J, Singh Ruchira

Abstract excerpt

Disruption of the photoreceptor-retinal pigment epithelium (RPE) interface, with loss of photoreceptor outer segments (POSs) in the retina, is a pathological hallmark of several neurodegenerative and retinal diseases, including lysosomal storage disorders like juvenile neuronal ceroid lipofuscinosis (CLN3) disease. However, in vitro stem cell models that enable investigation of the photoreceptor-RPE interface are...

Topics

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Lysosomal Storage Diseases
Lysosomes
Membrane Glycoproteins
Molecular Chaperones

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neuronal Ceroid-Lipofuscinoses

Organoids

Retina

Retinal Pigment Epithelium

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Open in PubMed

Identifiers

PMID: 42647598
DOI: 10.1126/scitranslmed.ady7616

Genes

CLN3
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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