Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy

Nida Wongchaisuwat; Alessia Amato; Andrew E Lamborn; Paul Yang; Lesley Everett; Mark E Pennesi

doi:10.4103/sjopt.sjopt_168_23

Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy

Saudi J Ophthalmol. 2023 Oct 24;37(4):276-286. doi: 10.4103/sjopt.sjopt_168_23. eCollection 2023 Oct-Dec.

Authors

Nida Wongchaisuwat^{1

2}, Alessia Amato², Andrew E Lamborn², Paul Yang², Lesley Everett^{2

3}, Mark E Pennesi^{2

3}

Affiliations

¹ Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
² Department of Ophthalmology, Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA.
³ Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA.

Abstract

Retinitis pigmentosa GTPase regulator (RPGR)-related retinopathy is a retinal dystrophy inherited in a X-linked recessive manner that typically causes progressive visual loss starting in childhood with severe visual impairment by the fourth decade of life. It manifests as an early onset and severe form of retinitis pigmentosa. There are currently no effective treatments for RPGR-related retinopathy; however, there are multiple clinical trials in progress exploring gene augmentation therapy aimed at slowing down or halting the progression of disease and possibly restoring visual function. This review focuses on the molecular biology, clinical manifestations, and the recent progress of gene therapy clinical trials.

Keywords: Gene therapy; X-linked retinitis pigmentosa; retinitis pigmentosa GTPase regulator.

Grants and funding

P30 EY010572/EY/NEI NIH HHS/United States