Article

Prph2 mutant knock-in mice recapitulate all features of human central areolar choroidal dystrophy and reveals an aberrant synaptic remodelling and microglial activation

2023-09-08

Abstract excerpt

<title>Abstract</title> <bold>Purpose</bold> Central areolar choroidal dystrophy is an inherited disorder characterized by progressive choriocapillaris atrophy and retinal degeneration, usually associated with mutations in the <italic>PRPH2</italic> gene. We aimed to generate and characterize a mouse model with the p.Arg195Leu mutation previously described in patients.<bold>Methods</bold> Heterozygous (<italic...

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Literature Corpus work: 07ef926d-44e1-50cb-9c3b-6cbb5bc00111
DOI: 10.21203/rs.3.rs-3221362/v1

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