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Article

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.

International journal of molecular sciences - 28 Jun 2022

Nassisi Marco, De Bartolo Giuseppe, Mohand-Said Saddek, Condroyer Christel, Antonio Aline, Lancelot Marie-Elise, Bujakowska Kinga, Smirnov Vasily, Pugliese Thomas, Neidhardt John, Sahel José-Alain, Zeitz Christina, Audo Isabelle

Abstract excerpt

Variants in the X-linked retinitis pigmentosa GTPase regulator gene (RPGR) and, specifically, in its retinal opening reading frame-15 isoform (RPGRORF15) may cause rod-cone (RCD), cone, and cone-rod dystrophies (CDs and CRDs). While RPGR-related RCDs have been frequently evaluated, the characteristics and progression of RPGR-related CD/CRDs are largely unknown. Therefore, the goal of our work was to perform...

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Open in PubMed Open full text

Identifiers

PMID: 35806195
DOI: 10.3390/ijms23137189
PMCID: PMC9266815

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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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