Article
[Two families with primary open-angle glaucoma associated with myocilin gene mutations].
Nippon Ganka Gakkai zasshi - 1 Apr 2002
Takahashi Hiroki, Ohtake Yuichirou, Kubota Ryo, Kimura Itaru, Miyata Hiroshi, Miyata Kazunori, Tanino Tomihiko, Mashima Yukihiko
Abstract excerpt
BACKGROUND: Myocilin is a gene that causes primary open-angle glaucoma(POAG). We found a family with normal tension glaucoma(NTG) whose members had an Asp 208 Glu mutation, and a family with POAG whose members had an Ile 360 Asn mutation in myocilin. CASE: In the family with the Asp 208 Glu mutation, the proband, a 31-year-old male, was diagnosed as having NTG. His mother had the same mutation and was also...
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