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RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options

Tee, JJ; Smith, AJ; Hardcastle, AJ; Michaelides, M; (2016) RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options. British Journal of Ophthalmology , 100 (8) pp. 1022-1027. 10.1136/bjophthalmol-2015-307698. Green open access

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Abstract

Retinitis pigmentosa GTPase regulator (RPGR) gene sequence variants account for the vast majority of X linked retinitis pigmentosa (RP), which is one of the most severe forms of RP. Symptoms of nyctalopia typically begin in childhood, with increasing loss of peripheral visual field during teenage years, and progressive central visual loss during the second to fourth decade of life. There is however marked intrafamilial and interfamilial phenotypic heterogeneity in affected males and carrier females. There is now a far greater understanding of the range of phenotypes associated with variants in this gene; including rod-cone dystrophy, cone-rod dystrophy, cone dystrophy, macular dystrophy and non-ocular phenotypes. There are also increasingly established genotype-phenotype associations and structure-function correlations. RPGR is involved in ciliary function, with ciliary dysfunction now recognised as the mechanism underlying a large proportion of inherited retinal disease. There has been significant progress in identifying naturally occurring animal models and developing novel models to define the underlying disease mechanisms and to test gene replacement therapy, in addition to advances in human retinal imaging, culminating in completed and planned clinical trials. These significant developments will be discussed.

Type: Article
Title: RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/bjophthalmol-2015-307698
Publisher version: http://dx.doi.org/10.1136/bjophthalmol-2015-307698
Language: English
Additional information: This article has been accepted for publication in the British Journal of Ophthalmology following peer review. The definitive copyedited, typeset version [Tee, JJ; Smith, AJ; Hardcastle, AJ; Michaelides, M; (2016) RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options. British Journal of Ophthalmology , 100 (8) pp. 1022-1027. 10.1136/bjophthalmol-2015-307698] is available online at: http://dx.doi.org/10.1136/bjophthalmol-2015-307698.
Keywords: Dystrophy, Genetics, Retina
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/1483240
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