%0 Journal Article
%T [Clinical practice guidelines for single gene glaucoma disorder].
%A Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association 
%A Yang Z
%A Yang J
%A Gong B
%A Zhang Q
%J Zhonghua Yi Xue Yi Chuan Xue Za Zhi
%V 37
%N 3
%D Mar 2020 10
%M 32128753
暂无%R 10.3760/cma.j.issn.1003-9406.2020.03.018
%X Glaucoma is a group of progressive optic neuropathies featuring retinal ganglion cell and axonal degeneration, which typically manifest as sunken atrophy of optic papilla and characteristic visual field defect. Genetic factors play an important role in the pathogenesis of glaucoma. This guideline mainly focuses on single gene mutation-related glaucoma by summarizing the pathogenic genes, disease diagnosis and clinical consultation of primary congenital glaucoma (PCG) and primary open-angle glaucoma (POAG), with an aim to regulate their molecular diagnosis, genetic counseling and treatment.