Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
نویسندگان
چکیده
منابع مشابه
Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa.
A nationwide, multicenter study of typical retinitis pigmentosa (RP) was carried out in collaboration with 18 hospitals throughout Japan to obtain current information for genetic counseling. We analyzed the genetic heterogeneity of RP based on the parental consanguinity of 434 probands registered during a 6-month period in 1990. A gradual decline in the frequency of consanguineous marriage was ...
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Background and Aims: Retinitis pigmentosa (RP) is the most common form of inherited retinal degeneration, photoreceptors loss of which in the retina causes visual loss. The purpose of the present study was to determine patterns of inheritance in RP patients in Yazd to help the health professional for designing suitable laboratory testing for the high risk families. Materials and Methods: Thirt...
متن کاملGenetic Counseling 1n Retinitis Pigmentosa
During his lifetime the practicing ophthalmologist will see more than a few retinitis pigmentosa cases. It is his responsibility not only to diagnose and prognosticate this eye disease, but also to set aside a little time in which to advise the patient and his family on its genetic aspects. Retinitis pigmentosa has been established as a definite hereditary disorder. Therefore, the most importan...
متن کاملGenetic markers for retinitis pigmentosa.
OBJECTIVE To review recent advances in the molecular genetics of retinitis pigmentosa with emphasis on the development of genetic markers that aids diagnosis and prognosis. DATA SOURCES AND EXTRACTION Literature search of MEDLINE from 1988 to 2005 using the following key words: 'retinitis pigmentosa', 'rhodopsin', 'RP1', 'RPGR', and 'genetic counseling'. References of two genes--RHO and RP1--...
متن کاملMulticenter genetic study of retinitis pigmentosa in Japan: II. Prevalence of autosomal recessive retinitis pigmentosa.
Retinitis pigmentosa (RP) is a group of genetically heterogeneous diseases with autosomal recessive (AR), autosomal dominant, and X-linked modes of inheritance. Autosomal recessive retinitis pigmentosa (ARRP) is the most common form in Japan. A genetic analysis was done to determine the prevalence of ARRP indirectly, to provide an estimation of changing trends in the overall prevalence of RP. D...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2019
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2018-105691