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...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Shiraz University of Medical Sciences
2018-03-01
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Series: | Iranian Journal of Medical Sciences |
Subjects: | |
Online Access: | http://ijms.sums.ac.ir/index.php/IJMS/article/view/3157 |