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Article

The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa.

Ophthalmic genetics - 1 Oct 2022

Mihailovic Nataša, Schimpf-Linzenbold Simone, Sattler Inga, Eter Nicole, Heiduschka Peter

Abstract excerpt

Clinical phenotypes of a patient with a deletion of the entire RPGR gene have not been described in the literature yet. We hereby report a new mutation in a family of X-linked retinitis pigmentosa (×lRP), showing the deletion of the entire RPGR gene. Gene therapy for inherited retinal diseases holds great promise; however, so far there has been no approved treatment of RPGR-mediated retinitis pigmentosa. The...

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Identifiers

PMID: 35652150
DOI: 10.1080/13816810.2022.2083181

Provenance

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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