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

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 w...

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Bibliographic Details
Main Authors: Farhad Nejat, Hossein Aghamollaei, Shiva Pirhadi, Khosrow Jadidi, Mohammad Amin Nejat
Format: Article
Language:English
Published: Shiraz University of Medical Sciences 2018-03-01
Series:Iranian Journal of Medical Sciences
Subjects:
Online Access:http://ijms.sums.ac.ir/index.php/IJMS/article/view/3157