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Article

Genotypic and Phenotypic Characterization of a Cohort of Patients Affected by Rod Cyclic Nucleotide Channel-Associated Retinitis Pigmentosa.

Ophthalmic research - 1 Jan 2024

Colombo Leonardo, Bonetti Gabriele, Maltese Paolo Enrico, Iarossi Giancarlo, Ziccardi Lucia, Fogagnolo Paolo, De Ruvo Valentino, Murro Vittoria, Giorgio Dario, Falsini Benedetto, Placidi Giorgio, Martella Salvatore, Galantin Eleonora, Bertelli Matteo, Rossetti Luca

Abstract excerpt

INTRODUCTION: Retinitis pigmentosa (RP), a heterogeneous inherited retinal disorder causing gradual vision loss, affects over 1 million people worldwide. Pathogenic variants in CNGA1 and CNGB1 genes, respectively, accounting for 1% and 4% of cases, impact the cyclic nucleotide-gated channel in rod photoreceptor cells. The aim of this study was to describe and compare genotypic and clinical characteristics of a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38705136
DOI: 10.1159/000538746

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