Publications by authors named "B Frits Hogewind"
Glaucoma is the cause of irreversible blindness worldwide. Mutations in six genes have been associated with juvenile- and adult-onset familial primary open angle glaucoma (POAG) prior to this report but they explain only a small proportion of the genetic load. The aim of the study is to identify the novel genetic cause of the POAG in the families with adult-onset glaucoma.
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- Primary open angle glaucoma (POAG) is a serious condition leading to vision loss and is linked to genetic factors.
- The study aimed to identify a gene responsible for POAG in a family by using whole exome sequencing to analyze the DNA of affected family members.
- A novel pathogenic variant in the TP53BP2 gene was discovered, which may be linked to the disease, and further research is needed to confirm its role across different populations.