Gene Therapy in X-linked Retinitis Pigmentosa Due to Defects in RPGR
نویسندگان
چکیده
Georgiou, Michalis MD, PhD; Awadh Hashem, Shaima MBBCh, MRCSed, FICO; Daich Varela, Malena MD; Michaelides, Michel MD(Res), FRCOphthAuthor Information
منابع مشابه
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
PURPOSE To measure the rates of visual acuity, visual field, and ERG loss in patients with X-linked retinitis pigmentosa due to RPGR mutations and to determine whether these rates differ from those of patients with dominant retinitis pigmentosa due to RHO mutations. METHODS Snellen visual acuities, Goldmann visual field areas (V4e white test light), and 30 Hz (cone) full-field ERG amplitudes ...
متن کاملGene Therapy for X-Linked Retinitis Pigmentosa
Copyright: © 2013 Shu X. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Retinitis Pigmentosa (RP) is a group of heterogeneous genetic disorders with a worldwide prevalence of 1 in 4000 individuals [1]. RP can...
متن کاملA retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3).
The X-linked RP3 locus codes for retinitis pigmentosa GTPase regulator (RPGR), a protein of unknown function with sequence homology to the guanine nucleotide exchange factor for Ran GTPase. We created an RPGR-deficient murine model by gene knockout. In the mutant mice, cone photoreceptors exhibit ectopic localization of cone opsins in the cell body and synapses and rod photoreceptors have a red...
متن کاملGene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR.
X-linked retinitis pigmentosa (XLRP) caused by mutations in the RPGR gene is a severe and early onset form of retinal degeneration, and no treatment is currently available. Recent evidence in two clinically relevant canine models shows that adeno-associated viral (AAV)-mediated RPGR gene transfer to rods and cones can prevent disease onset and rescue photoreceptors at early- and mid-stages of d...
متن کاملX-linked retinitis pigmentosa.
Of 107 consecutive patients with genetically-determined retinitis pigmentosa, 23 were provisionally diagnosed as having inherited the disease in an X-linked fashion. 42 affected males and 61 females were examined, and from the data obtained the following conclusions were drawn: (1) X-linked retinitis pigmentosa exists and is distinct from choroideremia. (2) In contrast to the results of previou...
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ژورنال
عنوان ژورنال: International Ophthalmology Clinics
سال: 2021
ISSN: ['0020-8167', '1536-9617']
DOI: https://doi.org/10.1097/iio.0000000000000384