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Review
. 2023 Nov 1;13(11):a041280.
doi: 10.1101/cshperspect.a041280.

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

Shaima Awadh Hashem  1   2 , Michalis Georgiou  1   2   3 , Robin R Ali  1   2   4 , Michel Michaelides  5   2
Affiliations
Review

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

Shaima Awadh Hashem et al. Cold Spring Harb Perspect Med. .

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.

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Figures

Figure 1.
Figure 1.
Retinitis pigmentosa GTPase regulator (RPGR)-associated rod-cone dystrophy. Color fundus photograph of the right eye of a 29-yr-old patient with RPGR-associated retinitis pigmentosa showing extensive peripheral retinal bone spicule pigmentation and atrophy (top); and optical coherence tomography (bottom) showing macular thinning and loss of outer retinal architecture peripherally, with relative preservation centrally.
Figure 2.
Figure 2.
Retinitis pigmentosa GTPase regulator (RPGR)-associated cone-rod dystrophy. Fundus autofluorescence image (top) showing parafoveal hyperautofluorescent ring with corresponding ellipsoid zone disruption on optical coherence tomography (below).
Figure 3.
Figure 3.
Retinal imaging in a female retinitis pigmentosa GTPase regulator (RPGR) retinopathy carrier. Fundus autofluorescence image of the left eye of an asymptomatic 45-yr-old female carrier showing a radial pattern “tapetal” reflex. Optical coherence tomography of the right eye shows preserved retinal lamination (below).
See this image and copyright information in PMC

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