Browsing by Author "Stefanovic, Ivan (25628694100)"

Background: Glutathione S-transferase omega-1 and 2 have a unique range of enzymatic activities, including the regeneration of ascorbate by their dehydroascorbate reductase activities. Because these enzymes could have a protective role from oxidative damage in the lens, the question of whether the two coding glutathione S-transferase omega polymorphisms confer the risk of age-related cataract was addressed. Methods: rs4925 (Ala140Asp) of glutathione S-transferase omega-1 and rs156697 (Asn142Asp) of glutathione S-transferase omega-2 polymorphisms in 100 patients with age-related cataract and 130 controls were assessed. Results: Presence of one mutant GSTO1*Asp or GSTO2*Asp allele did not contribute independently towards the risk of cataract; however, homozygous carriers of GSTO1*Asp/GSTO2*Asp haplotype demonstrated 3.42-fold enhanced risk of cataract development (95% confidence interval=0.84-13.93; P=0.086). When GSTO genotype was analysed in association with smoking or professional exposure to ultraviolet irradiation, carriers of at least one mutant GSTO2*Asp allele had increased risk of cataract development in comparison with individuals with wild-type GSTO2*Asn/Asn with no history of smoking or ultraviolet exposure (odds ratio=6.89, 95% confidence interval=1.81-16.21, P=0.005; odds ratio=4.10, 95% confidence interval=1.23-13.74, P=0.022, respectively). Regarding the distribution of particular glutathione S-transferase omega genotype and cataract type, the highest frequency of mutant GSTO2*Asp allele was found in patients with nuclear cataract. Conclusion: The results indicate that mutant GSTO2*Asp genotype is associated with increased risk of age-related cataract in smokers and ultraviolet-exposed subjects, suggesting a role of inefficient ascorbate regeneration in cataract development. © 2014 Royal Australian and New Zealand College of Ophthalmologists.

PURPOSE: We present the rare case of a young male patient with asymmetric ocular findings: pigmentary ocular hypertension associated with nonischemic central retinal vein occlusion (CRVO) in the right eye and pigmentary glaucoma (PG) with progressive glaucomatous optic damage in the left eye. PATIENTS AND METHODS: A 31-year-old man showed nonischemic CRVO in the right eye and the clinical triad of pigment dispersion syndrome in both eyes, however more marked in the left eye. Best-corrected visual acuity was logMAR 0.3 in the right eye and 1.0 in the left eye at presentation. The single risk for developing PG and CRVO was hyperhomocysteinemia. The patient was a carrier of the methylenetetrahydrofolate reductase C677 homozygous mutation. RESULTS: At 18 months of follow-up, visual acuity remained stable, intraocular pressure was in the normal range, but retinal tomography indicated an increase in glaucomatous optic damage to the nerve fiber layer in almost the complete temporal-inferior sector of the left eye, but without visual field defects in the left eye. Retinal tomography and automated perimetry were normal in the right eye. The patient received topical antiglaucomatous therapy. CONCLUSION: Higher levels of plasma homocysteine, even mildly elevated ones, could be associated with nonischemic CRVO and PG, especially when related to genetic risk factors or C677T mutation. Copyright 2009 S. Karger AG, Basel.

PURPOSE: We present the rare case of a young male patient with asymmetric ocular findings: pigmentary ocular hypertension associated with nonischemic central retinal vein occlusion (CRVO) in the right eye and pigmentary glaucoma (PG) with progressive glaucomatous optic damage in the left eye. PATIENTS AND METHODS: A 31-year-old man showed nonischemic CRVO in the right eye and the clinical triad of pigment dispersion syndrome in both eyes, however more marked in the left eye. Best-corrected visual acuity was logMAR 0.3 in the right eye and 1.0 in the left eye at presentation. The single risk for developing PG and CRVO was hyperhomocysteinemia. The patient was a carrier of the methylenetetrahydrofolate reductase C677 homozygous mutation. RESULTS: At 18 months of follow-up, visual acuity remained stable, intraocular pressure was in the normal range, but retinal tomography indicated an increase in glaucomatous optic damage to the nerve fiber layer in almost the complete temporal-inferior sector of the left eye, but without visual field defects in the left eye. Retinal tomography and automated perimetry were normal in the right eye. The patient received topical antiglaucomatous therapy. CONCLUSION: Higher levels of plasma homocysteine, even mildly elevated ones, could be associated with nonischemic CRVO and PG, especially when related to genetic risk factors or C677T mutation. Copyright 2009 S. Karger AG, Basel.