Factors determining age-related macular degeneration: a current view

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

Inherited Macular Dystrophies and Differential Diagnostics

The inherited macular dystrophies are characterized by different grade central visual loss and different character macula atrophy, because of retinal pigment epithelium lesion. The cause of photoreceptors degeneration is still not known. In this article, we review subjective and objective ophthalmological examines essential to diagnosis and differential diagnosis of inherited autosomal dominant and autosomal recessive macular dystrophies. It is known seven gene mutations (ABCA4, ELOVL4, PROML1, VMD2, Peripherin/RDS, TIMP3, XLRS), which may cause inherited macular dystrophies development. Inheritance type of inherited macular dystrophies, prevalence, beginning of disease, spread of the disease between female and male, clinic, electroretinography, electrooculography, differential diagnosis, genetic research and prognosis are also reviewed

Associations between contrast sensitivity and aging

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. [...]

TBX15 rs984222 gene polymorphism Association with AgeRelated Macular Degeneration by Gender

Background. Age-related macular degeneration (AMD) is a progressive neurodegenerative disease which damages the macula in the retina. AMD is the leading cause of blindness in adults over 65 years old in the developed countries. As etiology and pathogenesis of this disease is not clear, it has no cure at present [1]. Studies showed that the development of AMD is caused not only by environmental factors but also by genetic factors. Aim. To determine the frequency of the genotype of TBX15 rs984222 in patients with age-related macular degeneration by gender. Materials and methods. Study enrolled n=100 patients with age related macular degeneration and n=200 healthy controls. DNA was extracted from peripheral blood leukocytes using DNA salting-out method. Genotyping was carried out using realtime polymerase chain reaction (RT-PCR) method. Statistical analysis was performed with „SPSS version 20.0“. Results. The analysis of TBX15 rs984222 gene polymorphism in the overall group did not reveal any differences in the distribution of GG, GC and CC genotypes (43,1%, 43,1% and 13,8% in females with AMD group and 40,4%, 43,6%, 16% in control group; 52,4%, 35,7% and 11,9 in males with AMD group and 50% ,43,2%, 6,8% in control group, respectively). Conclusion. The comparison of TBX15 rs984222 genotype in males and females between patients with AMD and the control group did not show any statistically significant differences. [...]

Regos nervo disko drūzų sąsajos su spalvų jusle

Tyrimo tikslas. Nustatyti ribinio spalvinio kontrastinio jautrumo ir Munsell-Farnsworth 100 atspalvių atrinkimo tyrimų rodmenų ir regėjimo aštrumo sąsajas, esant regos nervo disko drūzų. Tyrimo medžiaga ir metodai. Atliktas 137 pacientų atvejo–kontrolės tyrimas. Ištirti 37 pacientai (67 akys), kuriems diagnozuotos regos nervo disko drūzos ir 100 sveikų žmonių (200 akių) kontrolinė grupė. Nekoreguotas ir geriausias koreguotas regėjimo aštrumas vertintas naudojant Landolto žiedus (C optotipais), pagal Sneleno principą. Spalvinio kontrastinio jautrumo tyrimui naudoti kompiuteriniai Farnsworth-Munsell 100 atspalvių ir ribinio spalvinio kontrastinio jautrumo tyrimai. Rezultatai. Kontrolinės grupės tiriamųjų, ribinis spalvinis kontrastinis jautrumas ir Farnsworth- Munsell 100 atspalvių atrinkimo tyrimo rezultatai buvo geresni nei pacientų (1,94±0,66 palyginti su 2,2±0,85, p=0,02; 94,1±53,9 palyginti su 120,6±61, p=0,003, atitinkamai). Išvada. Tyrimo duomenimis, regos nervo disko drūzos susijusios su spalvų juslės sumažėjimu

Genetic factors associated with the development of age-related macular degeneration

Age-related macular degeneration (AMD) 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 aged more than 60 years. This disease affects 2.5 million individuals in Europe. AMD is caused by both environmental and genetic factors. Numerous risk factors have been reported, but the pathogenesis of AMD is complex and fairly understood. Age, female gender, obesity, race, education status, family history, hyperopia, iris color, cigarette smoking, previ- ous cataract surgery, history of cardiovascular and cerebrovascular disease, diabetes, sunlight exposure and many other factors have been shown to be associated with AMD development. Scientific evidence shows that genes may play a role in the development of nearly 3 out of 4 cases of this devastating eye disease. The genes that have been shown to be associated with AMD are genes encoding complement system components such as CFH, C2, C3, CFB, and other

The Association of Matrix Metalloproteinases Polymorphisms and interleukins in Advanced Age-Related Macular Degeneration

Age-related macular degeneration is the leading cause of permanent, irreversible, central blindness in patients over the age of 50 years [1]. Genetic influence, cumulative exposure to oxidative stress, and immune-inflammatory mediated processes may be considered as possible risk factors for development of AMD [2]. Purpose: To assess the impact of MMP1-1607 1G/2G (rs1799750), MMP7-181 A/G (rs11568818) SNP and systemic cytokins IL-1β, IL-6 levels on the development of exudative age-related macular degeneration (eAMD). Methodology: The study group comprised 282 patients with eAMD, and the control group enrolled 379 randomly selected persons. The genotyping of MMP1 (rs1799750) and MMP7-181 (rs11568818) was performed by using the PCR-RFLP method. To determine IL-1β and IL-6 serum level, the immunoenzymatic method with monoclonal antibodies coated plates was performed. Results: Only MMP-1 rs1799750 1G/2G genotype was more frequently found in the development of eAMD, it was associated with a 4.3-fold increased risk for eAMD under the codominant model and a 4.9-fold increased risk for eAMD under the overdominant model and the effect was more pronounced at the age of less than 65 years. IL-1β concentration was significantly higher in eAMD patients compared with control group subjects for MMP1 rs1799750 1G/1G genotype and MMP7 rs11568818 A/G genotype. Conclusions: Only MMP-1 rs1799750 1G/2G genotype was found to increase the risk of eAMD, and the effect was more pronounced at the age of less than 65 years. IL-1β concentration was significantly higher in eAMD patients compared with control group subjects for MMP1 rs1799750 1G/1G genotype and MMP7 rs11568818 A/G genotype

Rs1800624 and rs1800625 association with MPOD in patients diagnosed with early age-related macular degeneration

Background: The pathogenesis of age-related macular degeneration (AMD) is associated with inflammation, oxidative stress, and drusen formation, leading to irreversible vision loss which may be caused by advanced glycation end products (AGEs). These molecules participate in the pathogenesis of AMD through specific receptors for AGE (RAGE), encoded by RAGE gene and any alterations in this gene can affect receptor activity and AMD development [1]. Decreased macular pigment optical density (MPOD) levels were already found to be associated with the increased risk for AMD development [2]. The aim of our study was to determine the association between MPOD levels and two single nucleotide polymorphisms (SNPs) (rs1800624 and rs1800625) in patients with early AMD. Materials and methods: Our study involved 92 patients diagnosed wtih early AMD. MPOD was measured to all study participants. The genotyping of rs1800624 and rs1800625 was performed using real-time polymerase chain reaction (RT-PCR) method. Statistical analysis was performed using the SPSS/W 20.0 software (Statistical Package for the Social Sciences for Windows, Inc., Chicago, Illinois, USA). Results: Statistical analysis was performed to compare MPOD levels between rs1800624 genotypes (AA, AT and TT) and rs1800625 genotypes (AA, AG and GG) in patients with early AMD. Results did not reveal statistically significant differences between MPOD values and rs1800624 genotypes (0.141±0.037 vs. 0.136±0.036 vs. 0.141±0.031; p=0.508), as well as between MPOD values and rs1800625 genotypes (0.140±0.031 vs. 0.136±0.042 vs. 0.152±0.062; p=0.744). Conclusion: Macular pigment optical density is not associated with SNPSs (rs1800624 and rs1800625) in patients with early AMD

A new maximum color contrast sensitivity test for detecting early changes of visual function in age-related macular degeneration

Background and objective: To determine the association between age-related macular degeneration (AMD) and color perception established by the Farnsworth–Munsell 100 hue (F–M 100) and maximum color contrast sensitivity (MCCS) tests. Materials and methods: We performed a case–control study, which comprised of 100 patients with AMD and 100 healthy controls. To test visual acuity (VA), a typical Snellen chart was used. The computerized F–M 100 and MCCS programs were used for color discrimination. Results: The results of VA, and the F–M 100 and MCCS tests in the healthy controls were statistically significantly better than in the patients with AMD (1.0 vs. 0.82 ± 0.16, P = 0.005; 87.39 ± 24.11 vs. 185.39 ± 74.43, P = 0.005; 1.33 ± 1.17 vs. 1.96 ± 0.46, P = 0.005, respectively). When VA was 1.0 in patients with AMD, the total error scores of the F–M 100 test and MCCS test compared with healthy persons were even worse (166.09 ± 66.57 vs. 87.39 ± 24.11, P = 0.002; 1.67 ± 0.92 vs. 1.33 ± 1.17, P = 0.001, respectively). Analysis of the results of patients with AMD compared to healthy controls showed the highest error score in the blue color range. Conclusions: The results of the color contrast sensitivity test decreased by half in patients with AMD compared with ophthalmologically healthy patients when they performed the F–M 100 test and by one and half when they performed a MCCS test in the blue color range

Matrix metalloproteinases (MMP-2,-3,-9) gene polymorphisms in cases of benign vocal fold lesions and laryngeal carcinoma

BACKGROUND/AIM: The matrix metalloproteinases (MMP) play an important role in the physiological and pathological remodeling of tissues including carcinogenesis. The study's aim was to assess the relations between MMP-2(-735C/T), MMP-2(-1306C/T), MMP-9(-1562C/T), and MMP-3(-11715A/6A) polymorphisms, and clinical/morphological manifestation of laryngeal squamous cell carcinoma (LSCC) and benign vocal fold lesions (BVFL). PATIENTS AND METHODS: Two hundred and seventeen patients with LSCC and BVFL and 458 controls were included in this study. The genotyping was performed using the real-time polymerase chain reaction method. RESULTS: The MMP-2(-1306C/T) C/T genotype was significantly rarer among the patients with moderate-poorly differentiated LSCC compared to the control group, however the MMP-3(-11715A/6A) 6A/6A genotype was significantly more frequent compared to controls. Smoking and 6A/6A genotype of MMP-3(-11715A/6A) polymorphism were associated with increased odds of LSCC risk. No associations between MMP genotypes and BVFL were found. CONCLUSION: Smoking and MMP-3 (-11715A/6A) 6A/6A genotype may cause a higher risk for developing LSCC