Journal of the Korean Ophthalmological Society 2003;44(8):1903-1907.
Published online August 1, 2003.
OPTN gene Mutation in Normal-Tension Glaucoma.
Do Hyun Jeong, Mi Rang Kim, Yeon Kyong Mun, Changwon Kee
Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University College of Medicine, Seoul, Korea.
정상안압 녹내장환자에서 OPTN 유전자의 돌연변이
정도현 ( Jeong Do Hyeon ) , 김미랑 ( Kim Mi Lang ) , 문연경 ( Mun Yeon Gyeong ) , 기창원 ( Gi Chang Won )
We have evaluated the mutations of the OPTN gene, which has been reported to be associated with the normal tension glaucoma (NTG). METHODS: The OPTN gene was analyzed in 53 patients with NTG and 40 normal subjects. Genomic DNA was extracted from the blood samples of each patients, exon 5 and exon 6 of the OPTN gene were amplified by PCR and DNA sequencing was performed. RESULTS: No mutation was found in normal subjects. But three kinds of point mutation (G412A, C459T in exon 5, G577C in exon 6) were found in 7 patients with NTG. CONCLUSIONS: We report the novel point mutations of OPTN gene in NTG patients. This shows the possibility of diagnosis of NTG by detecting the mutation of OPTN gene.
Key Words: Normal Tension Glaucoma;OPTN gene;Point Mutation

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