Pathogenesis of age-related macular degeneration and pachychoroid neovasculopathy

2019 Fiscal Year Final Research Report

• Project/Area Number: 18K16955
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 56060:Ophthalmology-related
• Research Institution: Kyoto University
• Principal Investigator: Miyake Masahiro 京都大学, 医学研究科, 特定助教 (90812793)
• Project Period (FY): 2018-04-01 – 2020-03-31
• Keywords: 加齢黄斑変性 / パキコロイド新生血管 / 機械学習 / 中心性漿液性脈絡網膜症 / ゲノムワイド関連解析

Outline of Final Research Achievements

Age-related macular degeneration (AMD) and pachychoroid neovasculopathy (PNV) both present with choroidal neovascularization (CNV). In this study, we show that CNVs are automatically classified into two groups by unsupervised machine learning (K-means method), and one group represents PNVs; PNVs may account for 47% of CNVs.
In addition, genome-wide association analysis of central serous choroidal retinopathy (CSC), which predisposes to PNV, was performed and two new susceptibility genes were identified. One of them, TNFRSF10A, was previously identified as a disease susceptibility gene in AMD, and this gene was more strongly associated with CSCs than AMD.

Free Research Field

眼科学

Academic Significance and Societal Importance of the Research Achievements

本邦で加齢黄斑変性（AMD）と診断されていた疾患のうちの47%が中心性漿液性脈絡網膜症（CSC）/パキコロイド新生血管（PNV）であったがために、本来CSCの疾患感受性遺伝子である TNFRSF10Aが、AMDの疾患感受性遺伝子として報告されてきたという可能性を示唆する結果であった。AMDとPNVとで治療経過が異なる可能性も示されており、適切な鑑別が重要である。