The Role of SNPs in IL1RL1 and IL1RAP Genes in Age-related Macular Degeneration Development and Treatment Efficacy.

BACKGROUND: Age-related macular degeneration (AMD) affects the central part of the retina and causes blindness. In developed countries, AMD occurs in people over 50 years old. Important factors for AMD pathogenesis are an immune response, inflammation, and genetic factors. This study aimed to determine the impact of IL1RL1 rs1041973 and IL1RAP rs4624606 single nucleotide polymorphisms (SNPs) on the occurrence of AMD and the outcome of treatment with aflibercept and bevacizumab. PATIENTS AND METHODS: 563 patients with AMD and 281 healthy candidates were evaluated. Patients with exudative AMD were treated with intravitreal bevacizumab and aflibercept and, after 6 months based on the changes in best-corrected visual acuity and central macular thickness, were classified as 'responders' or 'poor-responders'. Genotyping of IL1RL1 rs1041973 and IL1RAP rs4624606 was accomplished using real-time PCR. Age was compared using the Mann-Whitney U-test. Categorical data (gender, genotype, and allele distributions) compared between groups using the χ2 test or the Fisher's exact test. Associations of gene polymorphisms were calculated using logistic regression analysis with adjustment for age in exudative and atrophic AMD analysis. An adjusted significance threshold for multiple comparisons α=0.025 was applied. RESULTS: Statistically significant differences in the distribution of IL1RAP rs4624606 genotypes (TT, TA and AA) were found between males with atrophic AMD and controls: 50%, 42.9% and 7.1% vs. 69.7%, 30.3% and 0%, respectively, p=0.015. Moreover, we found that 'responders' had a significantly better best-corrected visual acuity than 'poor-responders' before treatment (p=0.032). The central macular thickness was significantly lower in exudative AMD patients with IL1RL1 rs1041973 AA genotype than in wild type and heterozygous (CC+CA) genotype carriers before treatment (p=0.017). CONCLUSION: IL1RAP rs4624606 may be associated with atrophic AMD in males while IL1RL1 rs1041973 may play a protective role against macular thickening in exudative AMD patients.

Characteristics of headache in relation to the manifestation of Susac syndrome.

Susac syndrome is characterized by a clinical triad of encephalopathy, branch retinal artery occlusion, and hearing loss. Due to the absence of the whole complex of the triad in the majority of cases at disease presentation, the syndrome often remains underdiagnosed and untreated. Headache is estimated to affect up to 80% of Susac syndrome patients, but the relevance of headache characteristics and profile is not yet clear. The proposed diagnostic criteria of the European Susac Consortium acknowledge headache as a possible brain manifestation if it is new, described as migrainous or oppressive, and precedes the other symptoms by not more than 6 months. Herein, a case series of different migraine-like headache associations attributed to Susac syndrome is presented and discussed in relevance with previously published literature. Our patients experienced different presentations of migraine-like headache related with Susac syndrome: exacerbation and chronification of headache just before the manifestation of the first symptoms of Susac syndrome, the manifestation of headache during the first episode of the syndrome, and an increasing frequency of headache during the course of the disease. The diagnosis of Susac syndrome in all three cases was confirmed by typical clinical symptoms and findings in retinal fluorescein angiography, audiometry, and brain magnetic resonance imaging, based on the diagnostic criteria of the European Susac Consortium. Based on the analysis of our presented cases, we conclude that headache attributed to Susac's syndrome is of migraine-like type but could be of different presentations in relation to the onset of the syndrome.

Correlations between digital planimetry and optical coherence tomography, confocal scanning laser ophthalmoscopy in assessment of optic disc parameters.

OBJECTIVE AND AIM: In routine clinical practice, laser methods for the evaluation of optic disc parameters are expensive and not accessible for all ophthalmologists; therefore, there is a need for less expensive technique. The aim of this study was to assess correlations between the parameters of the optic disc measured by digital planimetry (DP), optical coherence tomography (OCT), and confocal scanning laser ophthalmoscopy (CSLO) in healthy and glaucoma patients with the normal biometric parameters of the eye. MATERIAL AND METHODS: This case-control study enrolled 40 patients with glaucoma and 32 healthy patients with the normal biometric parameters of the eye. All subjects underwent full ophthalmologic examination, digital color optic disc photography, OCT, and CSLO at the same visit. The optic disc was morphometrically analyzed by DP, OCT, and CSLO. Seven optic disc parameters were evaluated. RESULTS: In the glaucoma group, the optic disc and cup areas (r=0.7-0.8, P<0.001) and cup-to-optic disc and rim-to-optic disc area ratios (r=0.7, P<0.001) measured by DP were strongly correlated with those measured by OCT and CSLO, while the horizontal and vertical cup-to-optic disc diameter ratios were found to be moderately correlated (r=0.6-0.7, P<0.001). In healthy patients, the optic disc and cup areas were strongly correlated (r=0.7-8.0, P<0.001). Significant differences in all optic disc parameters, except for the optic disc area, measured by DP, OCT, and CSLO were found between glaucoma and healthy patients. CONCLUSIONS: Strong correlations between the parameters of the optic disc measured by DP, OCT, and CSLO were found. There were significant differences in the parameters between healthy and glaucoma eyes measured using DP; therefore, this technique may be used for diagnosis, management, and screening of glaucoma.

Quality of life in patients with age-related macular degeneration.

UNLABELLED: The aim of this study was to evaluate the quality of life in persons affected by age-related macular degeneration. MATERIAL AND METHODS: The study was performed in the Clinic of Ophthalmology, Hospital of Lithuanian University of Health Sciences. A total of 140 patients completed the Visual Functioning Questionnaire and the Hospital Anxiety and Depression Scale (HADS) during this prospective study. The patients were divided into two groups: patients with age-related macular degeneration (70 patients) and control patients (70 patients). RESULTS: There was a significant difference in the quality of life between groups (P<0.0001). Analyzing patients with age-related macular degeneration within the group (patients with monocular or binocular disorders), significant differences in near vision (P=0.003), far vision (P=0.04), color vision (P=0.01), and social functioning (P=0.02) were observed. Mental health (r=0.326, P=0.02), dependency (r=0.340, P=0.02), and role difficulties (r=0.355, P=0.01) were found to be significantly associated with general vision in the age-related macular degeneration group. CONCLUSIONS: Age-related macular degeneration appeared to have a great impact on the quality of life. General vision impairment caused by age-related macular degeneration affects patient's mental health, dependency, and role difficulties.