Evaluation of retinal and choroidal changes in dry YBMD cases with reticular pseudodrusen by OCT and OCTA and determine the relationship with ARMS2 polymorphism

Project no. 22871 · Status: Kapanmış (Yayın bekleniyor) · 2021

Summary

Introduction and AimAge-related macular degeneration (AMD) is a polygenic and multifactorial disease. Many risk factors have been defined in the pathophysiology of the disease and to determine the prognosis. One of these risk factors is reticular pseudodrusen (RPD). The role of genetics in the pathophysiology of AMD is a current research topic, and single nucleotide variations are seemed to be associated with disease presence. In this study, it was aimed to determine the frequency of ARMS2 rs10490924 variation in patients with dry type AMD with and without RPD and to compare the results with healthy individuals. In addition, it was aimed to evaluate the multimodal imaging findings.MethodThis study was carried out between January 2020 and January 2022, at Ege University Faculty of Medicine, Department of Ophthalmology, Retina unit. Fifty dry-type AMD patients with RPD (Group 1), 50 dry-type AMD patients without RPD, and 50 age-sex-matched healthy volunteers (Group 3) who applied to the outpatient clinic were included in the study. In addition to detailed ophthalmological examinations of all participants, fundus autofluorescence (FOF), OCT, OCTA and EDI mode OCT imaging were performed. The presence of RPD was evaluated using FAF, OCT and infrared images, and the presence of 5 or more lesions was considered positive for RPD. To investigate the frequency of variation, genomic DNA was isolated from peripheral blood sample. The rs10490924 variant was evaluated using next-generation sequencing, and the risky T allele frequencies were calculated. From OCTA images vascular density, flow area, foveal avascular zone (FAZ) were evaluated. From EDI mode OCT images subfoveal choroidal thickness measurements and choroidal vascular index (CVI) calculation were performed using Image J (National Institutes of Health, Bethesda) program. The obtained data were compared between the groups using the SPSS package program.ResultsThe mean age was 73.6±7.4 (53.90), 70.7±5.7 (59.85), 66.6±12 (53.80) years for Groups 1, 2 and 3, respectively. Choroidal thickness and retinal thickness were found to be statistically significantly lower in Group 1 compared to Group 2 (p 0.0001, p 0.045). No significant difference was found between the groups related to FAZ (p >0.05). While there was no significant difference between Groups 1 and 2 in terms of superficial and deep vascular density, foveal thickness, flow area and choroidal thickness (p >0.05); when Group 1 and 3 patients were compared, all parameters were lower in Group 1 patients; when Group 2 and Group 3 were compared, all parameters were found to be lower in Group 2 patients (p value was 0.001 for all parameters).CVI calculated from EDI mode OCT images was significantly lower in Group 1 patients compared to Groups 2 and 3 (p 0.012, 0.023). Considering the groups according to the ARMS2 rs10490924 polymorphism T risk allele, 42% (21) patients were heterozygous, 30% (15) patients were homozygous in Group 1, and no risk allele was observed in 28% (14) patients. In Group 2, 44% (22) patients were heterozygous, 17% (8) patients were homozygous, and no risk allele was observed in 39% (20) patients. In Group 3, 33% (16) participants were heterozygous, 2% (1) participants were homozygous, and no risk allele was observed in 65% (33) participants. The number of participants with polymorphism in Group 1 was significantly higher than the other two groups; also participants with polymorphism in Group 2 were significantly higher than those in Group 3 (P values; 0.02, 0.04; 0.01, respectively). The risky allele frequency in all groups was calculated. T risk allele frequencies were 51%, 38%, and 18% in Groups 1, 2, and 3, respectively. The frequency of T risk allele was found to be significantly higher in Group 1 (p 0.02).ConclusionIn this study, ARMS2 rs10490924 variation was found to be at a significantly higher frequency in dry AMD patients with and without RPD. In addition, it has been shown that it is more common in AMD patients with RPD than in AMD patients without RPD. Vascular density and flow measurements obtained from OCTA data were found to be lower in AMD patients with RPD than in the healthy control group. The choroidal vascular component was found to be lower in RPD patients.

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