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

October 01, 2022

Nataša Mihailovic 1 2Simone Schimpf-Linzenbold 3Inga Sattler 3Nicole Eter 1Peter Heiduschka 1


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.

Keywords: AAV; RP; codon-optimization; inherited retinal diseases; phenotype.