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Iranian Journal of Medical Sciences، جلد ۴۳، شماره ۲، صفحات ۰-۰
عنوان فارسی
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عنوان انگلیسی Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family: A Case Report
چکیده انگلیسی مقاله Abstract Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implicated in different forms of RP. Herein, we report on a 9-member family with 2 girls and 5 boys. Both parents, one of the girls and one of the boys had normal eye vision and another boy had keratoconus. Other children (1 girl and 2 boys) suffered from both MCD and RP. Corneal transplantation and medical supplements were used for MCD and RP during the follow-up period, respectively. Based on the family tree, it seems that the inheritance of both diseases is autosomal recessive. Based on our search of databases, there is no report on the simultaneous presence of MCD and RP. To the best of our knowledge, the present article is the first case report on this topic. Molecular genetic investigation is needed to clarify the mechanism of concurrent MCD and RP.
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نویسندگان مقاله فرهاد نجات | farhad nejat
applied biotechnology research center, baqiyatallah university of medical sciences, tehran, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی بقیه الله (Baqiyatallah university of medical sciences)

حسین آقاملایی | hossein aghamollaei
department of biomedical engineering, science and research branch, islamic azad university, tehran, iran

سازمان اصلی تایید شده: دانشگاه آزاد اسلامی علوم و تحقیقات (Islamic azad university science and research branch)

شیوا پیرهادی | shiva pirhadi
department of ophthalmology, baqiyatallah university of medical sciences, tehran, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی بقیه الله (Baqiyatallah university of medical sciences)

خسرو جدیدی | khosrow jadidi
department of biomedical engineering, science and research branch, islamic azad university, tehran, iran

سازمان اصلی تایید شده: دانشگاه آزاد اسلامی علوم و تحقیقات (Islamic azad university science and research branch)

محمد امین نجات | mohammad amin nejat


نشانی اینترنتی http://ijms.sums.ac.ir/index.php/IJMS/article/view/3157
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/147/article-147-574112.pdf
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده
نوع مقاله منتشر شده Case Report(s)
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