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The morphogen behind primary congenital glaucoma and the dream of targeting.

作者信息

Shohdy Kyrillus Samaan, Rashad Wegdan Aly, Fargoun Mohamed Khalid, Urban Phillippe

机构信息

Faculty of Medicine, Cairo University, Cairo University Hospitals, Cairo, Egypt;

出版信息

Rom J Morphol Embryol. 2017;58(2):351-361.

Abstract

Glaucoma is a clinical entity with multifactorial etiology, a severe subtype occurs in infancy called primary congenital glaucoma (PCG). Three distinct levels interact sequentially to produce PCG: (i) genetic mutations mainly affecting the CYP1B1 gene, (ii) absence or dysregulation of a morphogen, and (iii) trabecular meshwork pathological changes either in patterning or remodeling. We will discuss these three levels in detail towards further understanding of the morphological basis of the disease, focusing on the missing points, for instance the exact nature and function of the morphogen along with the putative role of CYP1B1 gene.

摘要

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