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Y. Mashima, T. Funayama, Y. Ohtake, T. Tanino, I. Kimura, T. Iwata; DNA Sequence Variants in Optineurin in Japanese Patients with Primary Open Angle Glaucoma and Normal Tension Glaucoma . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1134.
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Purpose: Glaucoma is an important cause of blindness worldwide. Recently, mutations in optineurin have been described in patients with normal tension glaucoma (NTG) in the GLC1E locus. The frequency of mutations in optineurin in patients with adult primary open angle glaucoma (POAG) and in patients with NTG was determined. Methods: We screened unrelated Japanese 77 POAG patients, 125 NTG patients, and 102 normal controls. Transgenomic WAVE denaturing high performance liquid chromatography (dHPLC) was used to screen for sequence variants in the optineurin gene. Variations detected in dHPLC were directly sequenced. Results: Met 98Lys was identified in 14/77 POAG patients, 27/126 in NTG patients, and in 14/102 controls. Arg545Gln was identified in 6/77 POAG patients, 7/126in NTG patients, and in 5/102 controls. There were no significant differences between POAG/NTG and control groups. Conclusions: Optineurin may not be a major component of the phenotypic spectrum of POAG or NTG in Japanese population.
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