Inner Retinal Abnormalities in X-linked Retinitis Pigmentosa withRPGRMutations
نویسندگان
چکیده
منابع مشابه
Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.
PURPOSE To investigate in vivo the retinal microstructure in X-linked retinitis pigmentosa (XLRP) caused by RPGR mutations as a prelude to treatment initiatives for this common form of RP. METHODS Patients with RPGR-XLRP (n = 12; age range, 10-56 years) were studied by optical coherence tomography (OCT) in a wide region of central retina. Overall retinal thickness and outer nuclear layer (ONL...
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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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Patients with retinitis pigmentosa (RP) show delayed inner retinal responses as measured by the cone ERG response to a 30 Hz stimulus. To determine the extent to which this delay results from abnormalities of cone phototransduction, cone ERGs to single flashes were obtained from 21 patients with RP and a model of cone phototransduction was fitted to the leading edge of the a-waves of these ERGs...
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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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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2007
ISSN: 1552-5783
DOI: 10.1167/iovs.07-0453