NON RARE IN EUROPE: Age-related macular degeneration

Age-related macular degeneration (AMD), also known as age-related maculopathy, is a progressive degenerative disease affecting the macula, the central part of the retina responsible for sharp, detailed central vision. It is classified as non-rare in Europe due to its high prevalence, particularly among individuals over the age of 50. AMD is the leading cause of irreversible central vision loss in the elderly population in developed countries. The disease primarily affects the visual system, specifically the retinal pigment epithelium (RPE), Bruch's membrane, and the photoreceptor layer of the macula. AMD is broadly classified into two forms: dry (atrophic) AMD and wet (neovascular or exudative) AMD. Dry AMD, which accounts for approximately 80-90% of cases, is characterized by the accumulation of yellowish deposits called drusen beneath the retina, along with progressive atrophy of the RPE and photoreceptors, leading to gradual central vision loss. Wet AMD, though less common, is more severe and involves the growth of abnormal blood vessels (choroidal neovascularization) beneath the retina, which can leak fluid and blood, causing rapid and significant vision loss. Key symptoms include blurred or distorted central vision, difficulty reading or recognizing faces, the appearance of a dark or empty area in the center of vision (central scotoma), and metamorphopsia (straight lines appearing wavy). The pathogenesis of AMD is multifactorial, involving a complex interplay of genetic susceptibility, environmental factors, and aging processes. Major genetic risk factors include variants in the complement factor H (CFH) gene, ARMS2/HTRA1 locus, and other complement pathway genes. Smoking, obesity, cardiovascular disease, and prolonged UV light exposure are well-established environmental risk factors. Currently, there is no cure for AMD. For dry AMD, management focuses on nutritional supplementation (based on the AREDS2 formulation containing antioxidants, zinc, lutein, and zeaxanthin) and lifestyle modifications to slow disease progression. For wet AMD, intravitreal injections of anti-vascular endothelial growth factor (anti-VEGF) agents such as ranibizumab, aflibercept, and bevacizumab are the standard of care and can stabilize or improve vision in many patients. More recently, complement inhibitors such as pegcetacoplan and avacincaptad pegol have been approved for geographic atrophy associated with dry AMD.

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