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Choroideremia: molecular mechanisms and therapies
Hajrah Sarkar1, Mariya Moosajee2
1Development, Ageing, and Disease, University College London (UCL) Institute of Ophthalmology, London, EC1V 9EL, UK; Ocular Genomics and Therapeutics Laboratory, The Francis Crick Institute, London, NW1 1AT, UK.
Abstract:
Choroideremia (CHM) is a monogenic X-linked chorioretinal dystrophy affecting the photoreceptors, retinal pigment epithelium (RPE), and choroid; it is caused by mutations involving the CHM gene. CHM is characterized by night blindness in early childhood, progressing to peripheral visual field loss and eventually to complete blindness from middle age. CHM encodes the ubiquitously expressed Rab escort protein 1 (REP1), which is responsible for prenylation of Rab proteins and is essential for intracellular trafficking of vesicles. In this review we explore the role of REP1 in the retina and its newly discovered systemic manifestations, and discuss the therapeutic strategies for tackling this disease, including the outcomes from recent clinical trials.
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