Genetics of age-related macular degeneration

作者：Ting Andrew Y C; Lee Thomas K M; MacDonald Ian M^*

来源：Current Opinion in Ophthalmology, 2009, 20(5): 369-376.

DOI：10.1097/ICU.0b013e32832f8016

• age-related macular degeneration
• disease association
• genetics
• review
• single-nucleotide polymorphism

Purpose of review
Age-related macular degeneration (AMD) was until recently viewed as a part of the normal aging process; however, we are increasingly aware that genetic factors play a much greater role than previously suspected. This review will provide an up-to-date snapshot of the genetics of AMD to help guide our thoughts about its causes and the risk for family members.
Recent findings
Epidemiological research and basic bench research have identified pathways of oxidative stress, lipid metabolism and inflammation as playing causative roles in the pathogenesis of AMD. Emerging research is focusing on the biology of the retinal pigment epithelium as secreting pro and anti-inflammatory mediators in the eye. Antivascular endothelial growth factor therapy has dramatically improved the prognosis for neovascular or wet AMD patients. Nutritional supplementation with antioxidants and omega-3 fatty acids has provided treatment options for patients with atrophic or dry AMD. We should expect that some of the response to therapy might be genetically determined.
Summary
First-degree relatives of patients with AMD tend to have a higher risk of AMD. Recognizing an inherent genetic risk of AMD in these patients will improve their management and potentially help prevent blindness.

• 出版日期2009-9