Abstract:
:Primary congenital glaucoma (PCG) is one of the primary causes of blindness in children and is characterized by congenital trabecular meshwork and anterior chamber angle dysplasia. While being a rare condition, PCG severely impairs the quality of life of affected patients. However, the pathogenesis of PCG remains to be fully elucidated. It has previously been indicated that genetic factors serve a critical role in the pathogenesis of PCG, although patients with PCG exhibit significant genetic heterogeneity. Mutations in the cytochrome P450 family 1 subfamily B member 1 gene have been implicated in PCG and further genes that have been reported to be involved in PCG are myocilin, forkhead box C1, collagen type I α1 chain and latent transforming growth factor β binding protein 2. The present review aims to provide an up to date understanding of the genes associated with PCG and the use of molecular technologies in the identification of such genes and mutations. This may pave the way for the development of preventative methods, early diagnosis and improved therapeutic strategies in PCG.
journal_name
Exp Ther Medjournal_title
Experimental and therapeutic medicineauthors
Ling C,Zhang D,Zhang J,Sun H,Du Q,Li Xdoi
10.3892/etm.2020.8767subject
Has Abstractpub_date
2020-08-01 00:00:00pages
968-977issue
2eissn
1792-0981issn
1792-1015pii
ETM-0-0-8767journal_volume
20pub_type
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