Clinical and genetic characteristics of refractile drusen in age-related macular degeneration

2019 Fiscal Year Final Research Report

• Project/Area Number: 19K21347
• Project/Area Number (Other): 18H06253 (2018)
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Multi-year Fund (2019); Single-year Grants (2018)
• Review Section: 0906:Surgery related to the biological and sensory functions and related fields
• Research Institution: Kyoto University
• Principal Investigator: Takahashi Ayako 京都大学, 医学研究科, 助教 (30826540)
• Project Period (FY): 2018-08-24 – 2020-03-31
• Keywords: 加齢黄斑変性 / 萎縮型加齢黄斑変性 / refractile drusen / 一塩基多型

Outline of Final Research Achievements

The present study showed that 7.2% Japanese patients with early and late age-related macular degeneration accompanied refractile drusen. Retractile drusen were strongly related with retinal pigment epithelium and outer retinal atrophy, and dry age-related macular degeneration. The risk allele in single nucleotide polymorphism, ARMS2 A69S (rs10490924) was contributed to refractile drusen.

Free Research Field

眼科

Academic Significance and Societal Importance of the Research Achievements

Refractile drusenは網膜萎縮、萎縮型加齢黄斑変性に深く関連し、遺伝学的背景としてARMS2の一塩基多型に関与することが明らかとなった。今後refractile drusenの発生要因など病態をさらに研究することで、萎縮型加齢黄斑変性の病態、治療解明に寄与する可能性が考えられる。