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Nejat, Farhad, Aghamollaei, Hossein, Pirhadi, Shiva, Jadidi, Khosrow, Nejat, Mohammad Amin. (1396). Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family. سامانه مدیریت نشریات علمی, 43(2), 227-230. doi: 10.30476/ijms.2018.40524
Farhad Nejat; Hossein Aghamollaei; Shiva Pirhadi; Khosrow Jadidi; Mohammad Amin Nejat. "Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family". سامانه مدیریت نشریات علمی, 43, 2, 1396, 227-230. doi: 10.30476/ijms.2018.40524
Nejat, Farhad, Aghamollaei, Hossein, Pirhadi, Shiva, Jadidi, Khosrow, Nejat, Mohammad Amin. (1396). 'Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family', سامانه مدیریت نشریات علمی, 43(2), pp. 227-230. doi: 10.30476/ijms.2018.40524
Nejat, Farhad, Aghamollaei, Hossein, Pirhadi, Shiva, Jadidi, Khosrow, Nejat, Mohammad Amin. Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family. سامانه مدیریت نشریات علمی, 1396; 43(2): 227-230. doi: 10.30476/ijms.2018.40524

Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family

Iranian Journal of Medical Sciences
مقاله 15، دوره 43، شماره 2، خرداد 2018، صفحه 227-230    اصل مقاله (780.64 K)
نوع مقاله: Case Report(s)
شناسه دیجیتال (DOI): 10.30476/ijms.2018.40524
نویسندگان
Farhad Nejat1؛ Hossein Aghamollaei2؛ Shiva Pirhadi3؛ Khosrow Jadidi* 4؛ Mohammad Amin Nejat3
1Vision Health Research Center, Tehran, Iran
2Applied Biotechnology Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran
3Department of Biomedical Engineering, Science and Research Branch, Islamic Azad University, Tehran, Iran
4Department of Ophthalmology, Baqiyatallah University of Medical Sciences, Tehran, Iran
چکیده
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.
کلیدواژه‌ها
Macular corneal dystrophy؛ Retinitis pigmentosa؛ Pedigree؛ Genetic disease
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