[Ocular pulse amplitude in patients with open-angle glaucoma, normal-tension glaucoma, and ocular hypertensionby dynamic observing tonometry].

PURPOSE: The aim of this study was to compare the ocular pulse amplitude (OPA) in patients with different types of glaucoma, and also to evaluate the usefulness of OPA for the elucidation of normal-tension glaucoma (NTG). OPA is thought to reflect choroidal circulation. SUBJECTS: Sixty-six patients with normal-tension glaucoma (NTG), 52 patients with primary open angle glaucoma (POAG), 42 with ocular hypertension (OH) and 68 normal controls (NC) were enrolled in this study. METHODS: OPA was measured in all participants by dynamic observing tonometry(DOT). The correlation between OPA and the following parameters [IOP, refraction error (Ref), blood pressure, pulse pressure (PP), MD of Humphrey field analyzer 30-2, type of groups] was analyzed by linear and multiple regression analysis (MRA). Multiple logistic regression analysis (MLR) was used to estimate the adjusted odds ratio (OR) for evaluation of the association between OPA (including other factors) and the proportion of NTG. RESULTS: In MRA, IOP, Ref (< -3 D), PP and type of groups were significantly associated with OPA. The OPA in NTG was significantly lower than NC (p < 0.05). MLR demonstrated that OPA [OR 0.26 (95% CI, 0.12-0.57), p = 0.001] was associated with increased risk of having NTG. CONCLUSIONS: Lower OPA in patients with NTG suggests that there is insufficiency of ocular circulation in NTG. Evaluation of OPA may be useful for the elucidation of the pathogenesis of glaucoma.

[Clinical phenotype of a Japanese family with primary open-angle glaucoma caused by a Ala 363 Thr mutation in the MYOC gene].

BACKGROUND: Myocilin is a gene that causes primary open-angle glaucoma (POAG). We report a family whose members had an Ala 363 Thr mutation in the myocilin gene. We present the clinical phenotype of this family. CASE: The proband was a 57-year-old man diagnosed with POAG. His younger sister (50 years old) was also diagnosed with POAG. Visual field impairment did not worsen and ocular pressure decreased with eyedrop treatment. Although two of their children in their 30s had ocular hypertension, they did not have any sign of glaucomatous optic neuropathy. Genetic analysis revealed that all four family members had an Ala 363 Thr mutation in myocilin gene. CONCLUSION: Ala 363 Thr mutation was considered to be the cause of open-angle glaucoma. In this family, age at onset was comparatively high The two patients in their 30s had high intraocular pressure but no loss in visual acuity. The family members who had POAG and those who did not have POAG were not different from each other in the results of standard ocular examinations, only in age. Patients with this mutation will develop high intraocular pressure after 30 years of age and glaucomatous neuropathy after 50 years of age. When this gene mutation is detected in juvenile patients, careful follow-up and early therapy are necessary.