The association of single nucleotide polymorphisms in the MMP-9 genes with susceptibility to acute primary angle closure glaucoma in Taiwanese patients.

PURPOSE: To study the relationships between single nucleotide polymorphisms (SNPs) of extracellular matrix, matrix metalloproteases (MMPs), tissue inhibitors of MMPs, and other glaucoma-associated genes and acute primary angle closure glaucoma (PACG). METHODS: We extracted DNA samples from 78 adult patients with acute PACG and 86 control subjects to study the relationships between these specific genes and acute PACG. Genotyping was performed for 35 genes by the GenomeLab SNPstream genotyping system after PCR amplification of chromosomal DNA. The association between these genetic polymorphisms and risk of primary PACG was estimated by chi2 and logistic regression. RESULTS: The genotyping success rate was 99%. Genotyping for the MMP9 site (rs2664538) was significantly different between the two groups (p=0.000001) and the odds ratio was 2.586 (95% CI: 1.715-3.898, p<0.00001). However, there were no associations of SNPs to other genes in patients with acute PACG. CONCLUSIONS: Our results reveal that SNP rs2664538, which is located at the MMP9 gene, is likely to be associated with acute PACG.

Wolfram (DIDMOAD) syndrome: report of two patients.

We report a girl with Wolfram syndrome who presented with juvenile-onset diabetes mellitus when she was 4 3/12 years old. Optic atrophy and high frequency sensorineural hearing loss were found at 7 and 9 5/12 years of age, respectively. Her younger brother also developed Wolfram syndrome when he was 3 2/12 years old. Wolfram syndrome is also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). This syndrome is transmitted as an autosomal recessive trait and is a progressive neurodegenerative disorder. It should be considered in a diabetic patient with unexplained optic atrophy, hearing loss, or polyuria and polydipsia in the presence of adequate blood glucose control. Visual acuity should be checked annually in patients with juvenile-onset diabetes mellitus. Optic atrophy should be considered if visual acuity is impaired.

Ocular hypotensive effect and safety of brinzolamide ophthalmic solution in open angle glaucoma patients.

BACKGROUND AND PURPOSE: Brinzolamide is a new topical carbonic anhydrase inhibitor for intraocular pressure (IOP) control. It has high inhibitory activity against human carbonic anhydrase II, which is the key isoenzyme regulating aqueous humor production. We conducted this study to compare the ocular hypotensive effect and safety of 1% brinzolamide versus that of 0.5% timolol twice daily. METHODS: In a double-masked design, 50 open angle glaucoma patients who had a baseline IOP between 20 to 30 mm Hg were randomized to receive either 1% brinzolamide ophthalmic solution or 0.5% timolol twice daily. After completing a 2-week pre-study screening period, patients were scheduled to receive 6 weeks of treatment. Visual acuity, IOP, slit-lamp biomicroscopy, corneal thickness, refraction status, blood pressure, heart rate, and treatment-related signs and symptoms were evaluated at follow-up visits. The eye selected for treatment was the one with the higher baseline IOP, or the right eye if the IOPs were the same in both eyes. The fellow eye served as control. RESULTS: 48 patients completed the study, and there were 24 patients in each group. A significant decrease in mean IOP was found after 6 weeks of treatment in both the brinzolamide group (-17.0%) and the timolol group (-19.7%), with no significant between-group difference in the control of IOP. The central corneal thickness of treatment eyes, measured by ultrasound pachometry, had not changed after 6 weeks of brinzolamide treatment. The study medications were generally well tolerated and no serious adverse reactions occurred during the 6-week study period. CONCLUSION: When used twice a day, topical brinzolamide is as effective as 0.5% timolol in lowering IOP in patients with open angle glaucoma.