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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Detalles Bibliográficos
Autores principales: Nejat, Farhad, Aghamollaei, Hossein, Pirhadi, Shiva, Jadidi, Khosrow, Nejat, Mohammad Amin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Iranian Journal of Medical Sciences 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5936857/
https://www.ncbi.nlm.nih.gov/pubmed/29749994

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5936857/
https://www.ncbi.nlm.nih.gov/pubmed/29749994

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