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Age-related macular degeneration

Orpha number ORPHA279
Synonym(s) -
Prevalence >1 / 1000
Inheritance Multigenic/multifactorial
Autosomal dominant
Age of onset Adult
ICD-10
  • H35.3
ICD-O -
OMIM
UMLS
  • C0242383
MeSH -
MedDRA
  • 10064930

Summary

Age-related macular degeneration (ARMD) is defined as an ocular disease leading to loss of central vision in the elderly. Early forms of ARMD are reported to occur in 30% of the population of 75 years and above, and late forms in 4-8% of the individuals over 70 years. The disorder is characterized by both primary and secondary damage of macular retinal pigment epithelial (RPE) cells, resulting in formation of drusen (deposits lying beneath the RPE), choroidal neovascularization (CNV), and atrophy of photoreceptors and choriocapillaris layer of the choroidea. The clinical course of the disease is divided into two stages: the early ARMD stages characterized by macular drusen and late ARMD stages with neovascular complications (CNV) and disciform scarring. Early forms of ARMD are reported to occur in 30% of the population of 75 years and above, and late forms in 4-8% of the individuals over 70 years. The current etiopathogenic model is based on oxidative damage that influences negatively the metabolism of photoreceptors and RPE. Age, smoking, arteriosclerosis and genetic factors predispose to ARMD. Numerous loci segregate in ARMD families, suggesting complex oligogenic patterns of inheritance for the disease. ARMD is regarded as the leading cause for reading disability in individuals of 65 years and older in predominantly Caucasian populations, and is thus not a rare disorder. Current therapy encompasses nutritive antioxydants, laser treatment, surgery and magnifying devices.

Expert reviewer(s)

  • Pr Christian MARDIN

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