Abstract
Background and Objectives: The age-related macular degeneration (AMD) pathophysiology is multifactorial, as it consists of interactions between aging, genetic, and environmental factors. We aimed to determine a relationship between AMD and the genes controlling lipid metabolism, and to assess its association with treatment results. The purpose was to find the ABCA1 rs1883025 and CYP4F2 rs2108622 gene polymorphisms in patients with exudative AMD (eAMD) treated with anti-VEGF. Materials and Methods: The study enroled 104 patients with eAMD and 201 healthy persons in a control group. The genotyping of rs1883025 and rs2108622 was performed using the RT-PCR method. The best-corrected visual acuity (BCVA) and central retinal thickness (CRT) were measured before anti-VEGF therapy, then at three and six months during the therapy, using optical coherence tomography (OCT). The patients were grouped to responders and non-responders according to the changes in BCVA and CRT. Results: The T allele at rs1883025 was more frequent in non-responder eAMD patients compared to responder eAMD patients (41.7% vs. 21.1%; p = 0.009). The analysis of rs2108622 gene polymorphism did not reveal any differences in the distribution of C/C, C/T, and T/T genotypes between the eAMD group and the control group (56.35%, 39.78%, and 3.87% in the eAMD group and 53.33%, 39.05% and 7.62% in the control group, respectively, p = 0.286). The comparison of CRT and BCVA between the rs2108622 genotypes revealed statistically significant differences: CRT was thicker for the CC carriers than for those with CT and TT genotypes (p = 0.030). Conclusion: The rs1883025 T allele was found to play a more significant role in non-responder eAMD patients compared to responder eAMD patients. The rs2108622 genotypes revealed statistically significant differences: CRT was thicker for the CC carriers than for those with CT and TT genotypes.
Highlights
age-related macular degeneration (AMD) is the main cause of blindness in the developed countries [1,2]
The comparison between the rs2108622 genotypes revealed statistically significant differences: central retinal thickness (CRT) was thicker for the CC carriers than for those with CT and TT genotypes (p = 0.030) (Table 8)
We investigated the association of ATP-binding cassette transporter A1 (ABCA1) rs1883025 and CYP4F2 rs2108622 with the improvement of VA in response to exudative AMD (eAMD) treatment, from both a functional (BCVA) and structural (CRT) aspect
Summary
AMD is the main cause of blindness in the developed countries [1,2]. Prevalence of this disease increases rapidly with the age over 75 years. As the population is aging, AMD is becoming a more and more serious problem in the world. There are two types of late AMD, i.e., atrophic and exudative. Atrophic AMD’s clinical signs are the presence of drusen and geographic atrophy of the retina. An exudative AMD’s signs are the invasion of abnormal choroidal membranes by newly formed blood vessels with the leakage of fluid under the retina [5]
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