Study of Patterns of Inheritance in Affected Patients with Retinitis Pigmentosa in Iranian Populations
- سال انتشار: 1398
- محل انتشار: مجله بین المللی آزمایشگاه پزشکی، دوره: 7، شماره: 1
- کد COI اختصاصی: JR_JIML-7-1_002
- زبان مقاله: انگلیسی
- تعداد مشاهده: 237
نویسندگان
Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Department of Ophthalmology, Shahid Sadoughi University of Medical Science, Yazd, Iran.
Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
چکیده
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: Thirty affected RP patients referred to the Genetics Clinic of Research and Clinical Center for Infertility, in Yazd Medical Sciences University from ۲۰۱۰-۲۰۱۶. Full medical and family histories were taken from all family members. Ophthalmology examinations were performed in members of the families including electroretinogram, fundus photography, visual-field measurements and spectral domain optical coherence tomography. Results: In this study, the most commonly pattern was inheritance of autosomal recessive. The patients were diagnosed as having Usher syndrome, Bardet-Biedl syndrome and Posterior Column Ataxia with Retinitis Pigmentosa. The study also reported a patient with Kreans-Sayer syndrome, a mitochondrial disease. Conclusions: We identified different inheritance patterns in RP patients. Identifying patterns of inheritance is important for pre-marriage and pre-conception genetic counselling.کلیدواژه ها
Bardet-Biedl syndrome, Patterns of inheritance, Retinitis pigmentosaاطلاعات بیشتر در مورد COI
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