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Article

Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant.

Scientific reports - 8 Jan 2021

Strubbe Ine, Van Cauwenbergh Caroline, De Zaeytijd Julie, De Jaegere Sarah, De Bruyne Marieke, Rosseel Toon, Van de Sompele Stijn, De Baere Elfride, Leroy Bart P

Abstract excerpt

We describe both phenotype and pathogenesis in two male siblings with typical retinitis pigmentosa (RP) and the potentially X-linked RP (XLRP) carrier phenotype in their mother. Two affected sons, two unaffected daughters, and their mother underwent detailed ophthalmological assessments including Goldmann perimetry, color vision testing, multimodal imaging and ISCEV-standard electroretinography. Genetic testing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33420188
DOI: 10.1038/s41598-020-80400-3
PMCID: PMC7794345

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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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