J Korean Ophthalmol Soc.  2003 Aug;44(8):1903-1907.

OPTN gene Mutation in Normal-Tension Glaucoma

• Jeong DH
• Kim MR
• Mun YK
• Kee C

Abstract

PURPOSE
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.

Keyword

Normal Tension Glaucoma; OPTN gene; Point Mutation

MeSH Terms

Diagnosis
DNA
Exons
Glaucoma*
Humans
Low Tension Glaucoma
Point Mutation
Polymerase Chain Reaction
Sequence Analysis, DNA
DNA