UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

RPGR-Related Retinopathy: Clinical Features, Molecular Genetics, and Gene Replacement Therapy

Awadh Hashem, Shaima; Georgiou, Michalis; Ali, Robin R; Michaelides, Michel; (2023) RPGR-Related Retinopathy: Clinical Features, Molecular Genetics, and Gene Replacement Therapy. Cold Spring Harbor Perspectives in Medicine 10.1101/cshperspect.a041280. (In press). Green open access

[thumbnail of Michaelides_RPGR_Chapter[2022].pdf]
Preview
Text
Michaelides_RPGR_Chapter[2022].pdf

Download (345kB) | Preview

Abstract

Retinitis pigmentosa GTPase regulator (RPGR) gene variants are the predominant cause of X-linked retinitis pigmentosa (XLRP) and a common cause of cone-rod dystrophy (CORD). XLRP presents as early as the first decade of life, with impaired night vision and constriction of peripheral visual field and rapid progression, eventually leading to blindness. In this review, we present RPGR gene structure and function, molecular genetics, animal models, RPGR-associated phenotypes and highlight emerging potential treatments such as gene-replacement therapy.

Type: Article
Title: RPGR-Related Retinopathy: Clinical Features, Molecular Genetics, and Gene Replacement Therapy
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1101/cshperspect.a041280
Publisher version: https://doi.org/10.1101/cshperspect.a041280
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10171936
Downloads since deposit
156Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item