Rasa Liutkevičienė

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, previous 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.

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.

Association of MMP-2 (–1306 C/T) Gene Polymorphism with Predisposition to Optic Neuritis and Optic Neuritis Together with Multiple Sclerosis

Background and objective: Optic neuritis (ON) is characterized by painful, usually monocular vision loss with decreased visual acuity and defects of the visual field and color vision. The etiology and pathophysiology of ON is not completely clear. It is thought that a matrix metalloproteinase 2 (MMP-2) gene plays an essential role in this autoimmune inflammatory disease. The aim of this study was to determine the relationship between the MMP-2 (-1306 C/T) rs243865 gene polymorphism and ON, and that of ON with multiple sclerosis. Materials and methods: Patients with ON/ON and multiple sclerosis and a control group of healthy individuals were enrolled in this study. The genotyping test of the MMP-2 (-1306 C/T) was carried out using a real-time polymerase chain reaction (PCR) method. Results: Analysis revealed that T allele at the MMP-2 (-1306 C/T) was less frequent in the ON group compared to the control group (14.5% vs. 23.3%, p = 0.031), and was associated with decreased likelihood of ON development (OR = 0.566; 95% CI: 0.333-0.962; p = 0.036). No significant associations were revealed while comparing the subgroups of ON patients with and without multiple sclerosis. Conclusion: The MMP-2 (-1306 C/T) gene polymorphism was found to be associated with ON development.

The role of MMP-1 and FGFR4-R388 gene polymorphisms in pituitary adenoma

Background. The pathogenesis of pituitary adenoma (PA) is complex and poorly understood. It is thought that PA has a multifactorial aetiology; genetic factors also have an impact on PA development. Since MMP1 and FGFR4 genes play an important role in tumour growth, differentiation and progression, we decided to determine if the frequency of the genotypes of MMP-1 and FGFR4-R388 polymorphisms influence the development of PA. Materials and methods. The study enrolled n = 100 patients with PA and n = 200 healthy controls (reference group). The genotyping tests of MMP-1 and FGFR4-R388 were carried out using the real-time polymerase chain reaction (PCR) method. Results. The polymorphism in the MMP-1 gene 1G/1G genotype was more frequent in the group of invasive PA than in the control group: 28.6% vs. 16.5%, p = 0.044. The 1G/2G genotype was more frequent in females of the control group compared to PA group females: 50.3% vs. 30.8%, p = 0.011. The polymorphism in the MMP-1 gene 1G/1G genotype was more frequent in the active PA group than in the control group: 28.4% vs. 16.5%, p = 0.044. FGFR4-R388 did not play any predominant role in PA development. Conclusion. The MMP-1 gene 1G/1G may play a role in invasive and active PA development.

Association of the genetic and traditional risk factors of ischaemic heart disease with STEMI and NSTEMI development

Introduction: To evaluate the influence of traditional risk factors of ischaemic heart disease and genetic factors to predict different types of acute coronary syndromes. Materials and methods: Five hundred and twenty-three patients with acute coronary syndromes (393 with ST elevation myocardial infarction (STEMI) and 130 with non-ST elevation myocardial infarction (NSTEMI)) comprised the study group. The control group consisted of 645 subjects free from symptoms of ischaemic heart disease and stroke. Genetic polymorphisms of MMP-2 (–735) C/T, MMP-2 (–1306) C/T, MMP-3 (–1171) 5A/6A, MMP-9 (–1562) C/T and ACE I/D were evaluated using polymerase chain reaction. Results: Patients with acute coronary syndromes more often had ID or II genotype than DD genotype of ACE (P = 0.04) and 5A5A or 5A6A genotype than 6A6A genotype of MMP-3 (P = 0.02) in comparison to the control group. The genotypes of other matrix metalloproteinase genes did not differ between the groups. 5A5A and 5A6A genotypes of MMP-3 (odds ratio (OR) 1.5; P = 0.021), II and ID genotypes of ACE (OR 1.7; P = 0.006) along with traditional ischaemic heart disease risk factors such as smoking (OR 4.9; P = 0.001), hypertension (OR 2.0; P = 0.001), diabetes mellitus (OR 2.9; P = 0.001) and dyslipidaemia (OR 2.1; P = 0.001) increased the risk of STEMI. However, the polymorphism of MMP-3 5A/6A and ACE I/D was not associated with the occurrence of NSTEMI. Conclusions: Genetic polymorphisms of MMP-3 5A/6A and ACE I/D along with conventional ischaemic heart disease risk factors increase the risk of the occurrence of STEMI, while having no influence on the pathogenesis of NSTEMI.

Refractive errors characteristic of the patients at the Children’s Ophthalmology Outpatient Department of Kauno klinikos Hospital (Lithuanian University of Health Sciences) from 1 January 2012 to 31 December 2012

Background. The purpose of our study was to assess the distribution and patterns of refractive errors in children for the proper planning of paediatric eye care at the centre. Material and methods. The study was conducted in the hospital of the Lithuanian University of Health Sciences in Kaunas, from 1 January 2012 to 31 December 2012. During this period, a total of 11,406 children, aged 0–18 years, were evaluated at the outpatient department of paediatric ophthalmology, Kauno klinikos, the Lithuanian University of Health Sciences. All the children underwent a complete ophthalmic examination with cycloplegic refraction. Results. Myopia increased from 1.5% (95% CI:1.2, 1.8) in the age group of 0–1 to 44.7% (95% CI:43.46, 45.94) in the age group of 14–18 (p < 0.001). Myopia was associated with older age, female gender (20.3%; 95% CI:19.3, 21.3; p < 0.001). Hypermetropia decreased from 84.6% (95% CI:83.7, 85.5) in the cohort of 0–1 to 11.4% (95% CI: 10.61, 12.19) in the 14–18 age group (p < 0.001). Hypermetropia was associated with younger age, male gender (43.4%; 95% CI:42.16, 44.64; p < 0.001), preterm birth (56.1%; 95% CI:54.86, 57.34; 43.4%; p < 0.001), low birth weight (61.8%; 95% CI:60.59, 63.01; p < 0.001), and birth by Caesarean section (57.1%; 95% CI: 55.87; 58.33) (p < 0.001). The prevalence of astigmatism was 25.5% (95% CI: 24.41; 26.59) (p < 0.001). Astigmatism was associated with female gender (20.1%; 95%. CI: 19.1; 21.1) and too big pregnancy weight (22.1%.; 95%. CI: 21.06; 23.14) (p < 0.001). Conclusions. Of the 14–18 age group, 44.7% of the patients were myopic. Of the 0–1 age group, 84.6% were hypermetropic. Astigmatism was detected in about 25.5% of children. The prevalence of refractive errors was associated with age, gender, gestation age, gestation weight, and parental refractive error.

Associations between CYP2C8 rs10509681 and rs11572080 gene polymorphisms and age-related macular degeneration

Background. Age-related macular degeneration (AMD) is the most common cause of irreversible visual loss in industrialized countries. Early symptoms of AMD include drusen and changes in retinal pigment epithelium. However, the etiology of AMD and drusen formation is not fully understood. Recent studies suggest that CYP2C8-related metabolic processes might play an important role in the development of AMD. The aim of our study is to investigate CYP2C8 rs10509681 and CYP2C8 rs11572080 genotype frequencies in patients with early AMD and to compare them with healthy controls. Materials and Methods. The study enrolled 305 patients with early AMD and 300 healthy controls. The genotyping of CYP2C8 rs10509681 and CYP2C8 rs11572080 was carried out using the real-time PCR method. Results. The analysis of studied CYP2C8 polymorphisms did not reveal any statistically significant differences between the AMD and the control groups. For the CYP2C8 rs10509681 gene polymorphism the distribution of T/T, T/C, and C/C genotypes was 83.3%, 16.7%, and 0% vs. 83.7%, 15.7%, and 0.7%, p = 0.343. For the CYP2C8 rs11572080 gene polymorphism the distribution of C/C, T/C and T/T and genotypes was 84.9%, 15.1%, and 0% vs. 82.3%, 17.3%, and 0.3%, p = 0.447. Conclusion. The study revealed that there were no statistically significant differences in the distribution of CYP2C8 rs10509681 and CYP2C8 rs11572080 genotypes in patients with early AMD and in healthy controls.

Virtual Reality Based System for Investigation of Peripheral Vestibular Function

A prototype of virtual reality based system for investigation of peripheral vestibular function was presented. The system uses low cost head-mounted display (HMD) Oculus Rift 1 with built-in head orientation tracker and custom developed software. There were two virtual reality based tests implemented for investigation of peripheral vestibular function: subjective visual vertical and head tilt. HMD allowed to extend the tests by inclusion of dynamic 3D type disturbances. 38 normal subjects participated in the pilot study and were screened by using the proposed and reference methods. The experimental results suggest that virtual reality system Oculus Rift is able to generate the required visual stimuli and measure orientation parameters during subjective vertical tests. The research should be extended by inclusion of subjects with vestibular dysfunction.

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 astrumo sąsajas, esant regos nervo disko drūzų. Tyrimo medžiaga ir metodai. Atliktas 137 pacientų atvejo–kontrolės tyrimas. Istirti 37 pacientai (67 akys), kuriems diagnozuotos regos nervo disko drūzos ir 100 sveikų žmonių (200 akių) kontrolinė grupė. Nekoreguotas ir geriausias koreguotas regėjimo astrumas 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). Isvada. Tyrimo duomenimis, regos nervo disko drūzos susijusios su spalvų juslės sumažėjimu.