Background: Matrix metalloproteinases (MMP) are responsible for the degradation of extracellular matrix components and play an important role in the physiological and pathological remodeling of tissues. Purpose: To assess the impact of MMP-2 Rs2285053 (C –> T), MMP-3 Rs3025039 (5A –> 6A), and MMP-9 Rs3918242 (C –> T) single nucleotide polymorphism on the development of early age-related macular degeneration (AMD). Methods: The study group comprised 148 patients with AMD, and the control group enrolled 526 randomly selected persons. The genotyping of MMP-3 Rs3025039, MMP-2 Rs2285053, and MMP-9 Rs3918242 was performed by using the real-time PCR method. Results: The frequency of the MMP-2 (−735) C/T and MMP-3 (−1171) 5A/6A genotypes did not differ significantly between the patients with AMD and the control group, while the MMP-9 (−1562) C/C genotype was more frequently detected in patients with AMD than the control group (73.7% vs. 64.6%, p = 0.048). Logistic regression analysis showed that the MMP-9 (−1562) C/C genotype increased the likelihood of developing early AMD (OR = 1.51, 95% CI: 1.01–2.21; p = 0.046). After the subdivision into the groups by age, a significant difference only in the frequency of the MMP-9 (−1562) C/C genotype was found comparing the AMD patients and the control group younger than 65 years (79.7% vs. 66.4%, p = 0.039). Conclusions: Only MMP-9 Rs3918242 (C –> T) single nucleotide polymorphism was found to play a significant role in the development of AMD, and the effect was more pronounced at the age of less than 65 years.

Age-related macular degeneration affects the macula and is the leading cause of significant and irreversible central visual loss. It is the most common cause of visual loss in people older than 60 years. The pathogenesis of age-related macular degeneration is complex and not completely understood. It is thought that age-related macular degeneration has a multifactorial etiology, the development of which may be caused by interrelation of environmental and genetic factors and body characteristics. In this article, risk factors such as age, gender, cigarette smoking, color of the iris, nutrition, body mass index, oxidative stress, and genetic factors (complement factor H gene, Apo E gene, and others) are reviewed. Here, choroidal neovascularization process, in which hypoxia, inflammatory process, and proteolytic enzymes play a determinant role, is discussed. Considerable attention is paid to genetic polymorphism of matrix metalloproteinases, especially to matrix metalloproteinases 2 and 9, respectively gelatinases A and B, also to matrix metalloproteinase 9.

Leber hereditary ptic neuropathy (LHON) is a disease of young adults with bilateral, painless, subacute visual loss. The peak age of onset of LHON is in the second and third decades of life. Men are 4 times more likely to be affected than women. In about 25-50% of cases, both eyes are affected simultaneously. In unilateral cases, the other eye is usually affected 2 to 3 months later. Visual acuity deteriorates to counting fingers or worse with a dense central or centrocecal scotoma. In the subacute phase, the optic disc may appear hyperemic with swelling of the peripapillary retinal nerve fibre layer, peripapillary telangiectasias, and increased vascular tortuosity. Ocular coherence tomography of the macula shows marked thinning of the ganglion cell complex even at this stage. The diagnosis of LHON is made in a subject with a consistent clinical history and/or one of three common pathogenic mitochondrial DNA (mtDNA) variants identified by molecular genetic testing. Idebenone was approved by the European Medicines Agency under exceptional circumstances for the treatment of LHON. Current evidence suggests some benefit to vision in a subset of affected individuals treated with idebenone, particularly when treated within the first year of onset of vision loss. In this article, we discuss aetiology, clinical features, diagnosis, differential dignosis, prognosis and treatment.

Objective. The aim of this study was to assess age-related visual functions (visual acuity and contrast sensitivity) and compare the results by different age groups. Material and Methods. A total of 231 patients were examined. The patients were divided into 5 age groups: 10 patients in group 1, 30–39 years; 40 patients in the group 2, 40–49 years; 77 patients in the group 3, 50–59 years; 71 patients in the group 4, 60–70 years; and 33 patients in the group 5, 71–85 years. A typical Snellen’s chart (the direction of the gap in Landolt C) was used for noncorrected and best-corrected visual acuity testing. Contrast sensitivity was evaluated by employing a Ginsburg Box, VSCR-CST-6500. Results. Noncorrected visual acuity was significantly better in the group 2 than the group 3 (0.86 [0.28] vs. 0.69 [0.33], P=0.018). Moreover, noncorrected and best-corrected visual acuity was significantly better in the group 4 than the group 5 (0.52 [0.35] vs. 0.35 [0.28], P<0.001; and 0.9 [0.21] vs. 0.69 [0.27], P<0.005, respectively). Contrast sensitivity at the nighttime without glare was significantly worse in the group 2 than the group 1 at the spatial frequencies of 3, 12, and 18 cycles per degree (P=0.001, P=0.05, and P=0.01, respectively). The patients in the group 2 had significantly worse contrast sensitivity at the nighttime and daytime with glare at the spatial frequencies of 1.5, 12, and 18 cycles per degree (P=0.054, P=0.04, and P=0.01 and P=0.011, P=0.031, and P=0.011, respectively). The greatest differences in contrast sensitivity were observed between the groups 4 and 5, and it was 2 to 4 times better in the group 4. Comparing these groups, all the differences at the nighttime and daytime with and without glare were significant. Conclusions. Contrast sensitivity was worst among the oldest persons (71–85 years), and it began to worsen already in the persons aged 40–49 years. Contrast sensitivity was very similar in the age groups of 40–49 and 50–59 years.