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).
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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 |
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