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Article

PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural History.

Investigative ophthalmology & visual science - 1 Apr 2025

Bianco Lorenzo, Antropoli Alessio, Benadji Amine, Atia Raphaël, Palacci Oana, Condroyer Christel, Antonio Aline, Navarro Julien, Battaglia Parodi Maurizio, Sahel José-Alain, Zeitz Christina, Audo Isabelle

Abstract excerpt

Purpose: The purpose of this study was to describe the mutational landscape, clinical characteristics, and natural history of PCARE-associated retinopathy. Methods: Retrospective cohort study including 28 patients (56 eyes) affected by an inherited retinal disease related to PCARE variants. The main outcome measures were best-corrected visual acuity (BCVA) and degree of vision impairment, kinetic visual field...

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Identifiers

PMID: 40261664
DOI: 10.1167/iovs.66.4.61
PMCID: PMC12020960

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PCARE

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