Article
[Clinical phenotype of a Japanese family with primary open-angle glaucoma caused by a Ala 363 Thr mutation in the MYOC gene].
Nippon Ganka Gakkai zasshi - 1 Jan 2006
Ohyama Akihiro, Fujimaki Takuro, Kimura Tairoh, Kawabata Kiho, Fujiki Keiko, Ishikawa Karin, Mashima Yukihiko, Murakami Akira
Abstract excerpt
BACKGROUND: Myocilin is a gene that causes primary open-angle glaucoma (POAG). We report a family whose members had an Ala 363 Thr mutation in the myocilin gene. We present the clinical phenotype of this family. CASE: The proband was a 57-year-old man diagnosed with POAG. His younger sister (50 years old) was also diagnosed with POAG. Visual field impairment did not worsen and ocular pressure decreased with...
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