RP2 Phenotype and Pathogenetic Correlations in X-Linked Retinitis Pigmentosa
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...
متن کاملDifference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa.
AIM X linked retinitis pigmentosa (XLRP) has two genetic loci known as "RP2" and "RP3". Clinical features reported to differentiate RP2 from RP3 include a higher prevalence of myopia and primary cone dysfunction in RP2, and late onset night blindness and tapetal reflex in RP3. Members from 14 XLRP families were examined in an attempt to verify these differences. METHODS 16 affected males and ...
متن کاملMutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.
PURPOSE The X-linked form of retinitis pigmentosa (XLRP) is the most severe type because of its early onset and rapid progression. Five XLRP loci have been mapped, although only two genes, RPGR (for RP3) and RP2, have been cloned. In this study, 30 unrelated XLRP Spanish families were screened to determine the molecular cause of the disease. METHODS Haplotype analysis was performed, to determ...
متن کاملAnalysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa
Mutations in RP2 and RPGR genes are responsible for the X-linked retinitis pigmentosa (XLRP). In this study, we analyzed the RP2 and RPGR gene mutations in five Han Chinese families with XLRP. An approximately 17Kb large deletion including the exon 4 and exon 5 of RP2 gene was found in an XLRP family. In addition, four frameshift mutations including three novel mutations of c.1059 + 1 G > T, c....
متن کاملGenetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.
Genetic linkage and deletion studies have led to the proposal that there are at least two loci on the X chromosome which are responsible for X linked retinitis pigmentosa (XLRP). One locus (RP3) has been closely defined by genetic linkage and deletion analyses and localised to the region between the ornithine transcarbamylase (OTC) and chronic granulomatous disease (CYBB) loci in Xp21.1-p11.4. ...
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ژورنال
عنوان ژورنال: Archives of Ophthalmology
سال: 2010
ISSN: 0003-9950
DOI: 10.1001/archophthalmol.2010.122