Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene
نویسندگان
چکیده
منابع مشابه
Novel deletion spanning RCC1-like domain of RPGR in Japanese X-linked retinitis pigmentosa family.
PURPOSE To describe a macrodeletion spanning entire RCC1-like doman in the RPGR gene in one Japanese family with X-linked retinitis pigmentosa (XLRP). METHODS Clinical ophthalmologic examinations were performed and genomic DNA was extracted from blood samples. Genomic DNA was analyzed by Southern blot and PCR amplification with specific primers. RESULTS Patients had severe symptoms with ear...
متن کاملIdentification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.
OBJECTIVE To investigate the phenotypic and genotypic characteristics of a novel mutation associated with X-linked retinitis pigmentosa (XLRP). METHODS Six individuals in a family with XLRP were recruited, and clinical examinations were performed. All of the members were genotyped with microsatellite markers at loci that were considered to be associated with XLRP. The retinitis pigmentosa GTP...
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 کاملIdentification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia
The aim of this study was to describe a new pathogenic variant in the mutational hot spot exon ORF15 of retinitis pigmentosa GTPase regulator (RPGR) gene within an Italian family with X-linked retinitis pigmentosa (RP), detailing its distinctive genotype-phenotype correlation with pathologic myopia (PM). All members of this RP-PM family underwent a complete ophthalmic examination. The entire op...
متن کاملDisease 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 ...
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ژورنال
عنوان ژورنال: International Journal of Ophthalmology
سال: 2020
ISSN: 2222-3959,2227-4898
DOI: 10.18240/ijo.2020.08.18