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Article

Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.

International journal of molecular sciences - 27 Feb 2021

Kuehlewein Laura, Zobor Ditta, Stingl Katarina, Kempf Melanie, Nasser Fadi, Bernd Antje, Biskup Saskia, Cremers Frans P M, Khan Muhammad Imran, Mazzola Pascale, Schäferhoff Karin, Heinrich Tilman, Haack Tobias B, Wissinger Bernd, Zrenner Eberhart, Weisschuh Nicole, Kohl Susanne

Abstract excerpt

In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in the PDE6B gene. Patients underwent clinical examination and genetic testing at a single tertiary referral center, including best-corrected visual acuity (BCVA), kinetic visual field (VF), full-field electroretinography, full-field stimulus...

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Share to Cyclic Nucleotide Phosphodiesterases, Type 6
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33673512
DOI: 10.3390/ijms22052374
PMCID: PMC7956818

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