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Article

RPGR-Related X-Linked Retinitis Pigmentosa Carriers with a Severe "Male Pattern".

Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde - 1 Jan 2021

Salvetti Anna Paola, Nanda Anika, MacLaren Robert E

Abstract excerpt

BACKGROUND: X-linked retinitis pigmentosa (XLRP) due to mutations in the RPGR gene is a very severe form of RP, resulting in rapid disease progression and retinal dysfunction. Female carriers do not usually report symptoms. However, it has reported that carriers of XLRP can have a significant visual and retinal impairment. OBJECTIVES: To report a detailed description of 3 cases of severely affected females who...

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PMID: 32434206
DOI: 10.1159/000503687

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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