Abstract

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.

Highlights

  • Age-related macular degeneration (AMD) is referred to aging changes without any other obvious precipitating cause that occur in the central area of the retina in people aged 55 years and more [1]

  • Epidemiological studies have shown a complex interplay among genetic predisposition, systemic factors, lifestyle and environmental risk factors associated with the risk of AMD development

  • Huang et al performed a meta-analysis of 9 studies and showed that out of the 4 polymorphisms of the VEGFA gene, which were analyzed in this study, rs1413711 and rs833061 were found to be associated with an increased risk of AMD [98]

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Summary

Introduction

Age-related macular degeneration (AMD) is referred to aging changes without any other obvious precipitating cause that occur in the central area of the retina (macula) in people aged 55 years and more [1]. AMD is the most common cause of visual loss in persons aged more than 60 years [3]. The number of AMD-affected people in the developed countries is increasing dramatically. In 2014, Wong et al published a systematic literature review that aimed to estimate the number of people who will be affected by AMD in the future [7]. This study reported that the number of persons with AMD will globally increase to 196 million by 2020 and will reach 288 million by 2040 [7]. The aim of our article was to review literature, disclose the present view on the pathogenesis and classification of AMD, and reveal factors, especially genetic association, prognosis of the development of this disease

Pathophysiology of age-related macular degeneration
Classification of age-related macular degeneration
Risk factors
Genes associated with age-related macular degeneration
B3GALTL 7 CETP 8 CFB
13 COL8A1 14 COL10A1
29 RAD51B
30 SLC16A8
Findings
Concluding remarks
Full Text
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