Phenotypic Conservation in Patients With X-Linked Retinitis Pigmentosa Caused byRPGRMutations
نویسندگان
چکیده
منابع مشابه
X-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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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...
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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...
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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...
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PURPOSE To describe the peripheral autofluorescence images and clinical features of patients with retinal dystrophy who showed radial fundus autofluorescence (FAF) at the posterior pole. METHODS The authors retrospectively reviewed pooled wide-field FAF images of 711 patients with retinal dystrophy and 56 family members. RESULTS Eleven eyes of seven women exhibited radial FAF at the posteri...
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ژورنال
عنوان ژورنال: JAMA Ophthalmology
سال: 2013
ISSN: 2168-6165
DOI: 10.1001/jamaophthalmol.2013.120