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Article

Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease.

Investigative ophthalmology & visual science - 4 Nov 2024

Han Jimin, Chear Sueanne, Talbot Jana, Swier Vicki, Booth Clarissa, Reuben-Thomas Cheyenne, Dalvi Sonal, Weimer Jill M, Hewitt Alex W, Cook Anthony L, Singh Ruchira

Abstract excerpt

Purpose: CLN3 Batten disease (also known as juvenile neuronal ceroid lipofuscinosis) is a lysosomal storage disorder that typically initiates with retinal degeneration but is followed by seizure onset, motor decline and premature death. Patient-derived CLN3 disease induced pluripotent stem cell-RPE cells show defective phagocytosis of photoreceptor outer segment (POS). Because modifier genes are implicated in...

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Source

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Identifiers

PMID: 39535788
DOI: 10.1167/iovs.65.13.23
PMCID: PMC11563035

Genes

CLN3
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease.PMID 39535788Read ↗

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