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Article

Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation.

Cell death & disease - 1 Nov 2023

Ruiz-Pastor María José, Sánchez-Sáez Xavier, Kutsyr Oksana, Albertos-Arranz Henar, Sánchez-Castillo Carla, Ortuño-Lizarán Isabel, Martínez-Gil Natalia, Vidal-Gil Lorena, Méndez Lucía, Sánchez-Martín Manuel, Maneu Victoria, Lax Pedro, Cuenca Nicolás

Abstract excerpt

Central areolar choroidal dystrophy is an inherited disorder characterized by progressive choriocapillaris atrophy and retinal degeneration and is usually associated with mutations in the PRPH2 gene. We aimed to generate and characterize a mouse model with the p.Arg195Leu mutation previously described in patients. Heterozygous (Prph2WT/KI) and homozygous (Prph2KI/KI) mice were generated using the CRISPR/Cas9...

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Identifiers

PMID: 37914688
DOI: 10.1038/s41419-023-06243-8
PMCID: PMC10620171

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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