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Abstract #86337 Published in IGR 21-2
Clinical practice guidelines for single gene glaucoma disorder
Writing Group For Practice Guidelines For Diagnosi; Yang Z; Yang J; Gong B; Zhang QChinese Journal of Medical Genetics 2020; 37: 329-333
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.
Medical College of University of Electronic Science and Technology, Affiliated Hospital of University of Electronic Science and Technology, Key Laboratory of Human Disease Gene Research, Sichuan Provincial People's Hospital, Chengdu 610072, China. zliny@yahoo.com.
Full articleClassification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
