Abstract
Mutations in the trabecular-meshwork inducible/induced glucocorticoid response (TIGR) gene, also known as myocilin (MYOC) gene, were screened in 155 Japanese primary open-angle glaucoma (POAG) patients and 12 steroid responders. Fifty-nine POAG patients of 53 pedigrees with a family history of POAG, 102 POAG patients without no family history and 12 steroid responders were examined for the mutation in a portion (nucleotides corresponding to amino acid residue 317-476) of the TIGR/MYOC gene. No mutations were found other than the two which have been reported previously (Gly367Arg and Leu370Pro) in the POAG patients with a family history. The trabeculectomy specimen from a patient with the Leu370Pro mutation in the TIGR/MYOC gene was examined immunohistologically. The TIGR/MYOC protein was identified in the trabecular meshwork in the patient, and the immunoreactivity seemed more intense than that from the patient without the mutation.
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