Study of Patterns of Inheritance in Affected Patients with Retinitis Pigmentosa in Iranian Populations
سال انتشار: 1398
نوع سند: مقاله ژورنالی
زبان: انگلیسی
مشاهده: 138
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شناسه ملی سند علمی:
JR_JIML-7-1_002
تاریخ نمایه سازی: 6 اسفند 1401
چکیده مقاله:
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:
نویسندگان
فهیمه بیگی
Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
محمد یحیی وحیدی مهرجردی
Diabetes Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
مسعود رضا معنویت
Department of Ophthalmology, Shahid Sadoughi University of Medical Science, Yazd, Iran.
حمید رضا اشرف زاده
Abortion Research Centre, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
نسرین قاسمی
Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
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