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Article

Bilateral macular colobomata: expanded phenotype of PCARE/C2ORF71.

Ophthalmic genetics - 1 Oct 2025

Pederzolli Matteo, Servillo Andrea, Sacconi Riccardo, Bandello Francesco, Querques Giuseppe

Abstract excerpt

INTRODUCTION: Macular colobomata (MCs) are excavated chorioretinal lesions found in subjects with systemic diseases and syndromes, positive family history, congenital toxoplasmosis, North Carolina Macular Dystrophy, and other retinal dystrophies. METHODS: Case report. RESULTS: A full-term-born, otherwise healthy 18-year-old female patient with no known family history of ocular conditions presented bilateral MCs,...

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Identifiers

PMID: 40400237
DOI: 10.1080/13816810.2025.2503385

Genes

PCARE

Variants

Provenance

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