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

Mihailovic N; Schimpf-Linzenbold S; Sattler I; Eter N; Heiduschka P

Forschungsartikel (Zeitschrift) | Peer reviewed

Zusammenfassung

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 presented evidence of genotype-phenotype correlation may be useful for genetic diagnosis or even genetic treatment in the near future.

Details zur Publikation

FachzeitschriftOphthalmic Genetics
Jahrgang / Bandnr. / Volume43
Ausgabe / Heftnr. / Issue5
Seitenbereich679-684
StatusVeröffentlicht
Veröffentlichungsjahr2022 (31.10.2022)
Sprache, in der die Publikation verfasst istEnglisch
DOI10.1080/13816810.2022.2083181
StichwörterEye Proteins; Genetic Diseases, X-Linked; Humans; Mutation; Pedigree; Phenotype; Retina; Retinitis Pigmentosa

Autor*innen der Universität Münster

Eter, Nicole
Klinik für Augenheilkunde
Heiduschka, Peter
Klinik für Augenheilkunde
Mihailovic, Natasa
Klinik für Augenheilkunde