Detection of a New TIGR Gene Mutation in a Japanese Family With Primary Open Angle Glaucoma

Abstract

Purpose: To describe a new mutation of the trabecular meshwork-inducible glucocorticoid response protein (TIGR) gene in a Japanese patient with familial primary open angle glaucoma (POAG). Methods: Standard ocular examinations were performed on the 44-year-old patient, his sister, and mother. DNA sequencing was used to identify the mutation. We also developed a DNA diagnostic method for detecting this missense mutation by polymerase chain reaction-induced mutation restriction analysis (PCR-IMRA). Results: The patient, father, and sister had been diagnosed as having POAG. The patient and his sister had a Thr448Pro mutation (C→A transition at the nucleotide number 1419) in exon 3. This mutation has not been reported before. Conclusions: Gene analysis is promising for an early diagnosis among the family members of familial POAG patients and will contribute to early therapy before an occurrence of irreversible visual impairment.