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Article

Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.

International journal of molecular sciences - 20 May 2021

Weisschuh Nicole, Mazzola Pascale, Bertrand Miriam, Haack Tobias B, Wissinger Bernd, Kohl Susanne, Stingl Katarina

Abstract excerpt

Mutations in POC1B are a rare cause of inherited retinal degeneration. In this study, we present a thorough phenotypic and genotypic characterization of three individuals harboring putatively pathogenic variants in the POC1B gene. All patients displayed a similar, slowly progressive retinopathy (cone dystrophy or cone-rod dystrophy) with normal funduscopy but disrupted outer retinal layers on optical coherence...

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Identifiers

PMID: 34065499
DOI: 10.3390/ijms22105396
PMCID: PMC8160832

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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