Clinical and molecular investigation on foveal hypoplasia

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K09818
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 56060:Ophthalmology-related
• Research Institution: University of Occupational and Environmental Health, Japan
• Principal Investigator: Hiroyuki Kondo 産業医科大学, 医学部, 教授 (40268991)
• Co-Investigator(Kenkyū-buntansha): 和泉 弘人 産業医科大学, 産業生態科学研究所, 准教授 (50289576)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: 黄斑低形成 / PAX6 / 全エクソームシークエンス / siRNA / トランス活性ドメイン / SLC38A8 / GPR143 / FRMD7

Outline of Final Research Achievements

Foveal hypoplasia is a congenital disorder of macular development. It is often associated with diseases such as albinism and aniridia, and its morphological and functional abnormalities vary widely. The purpose of this study was to elucidate the genetic abnormalities and clinical features of isolated foveal hypoplasia in Japanese patients, and to elucidate the mechanisms involved in foveal development. We conducted basic experiments on the PAX6 gene, a representative gene causing foveal hypoplasia, and clarified the molecular mechanism that causes foveal hypoplasia. Furthermore, we selected new candidate genes for foveal hypoplasia based on the PAX6 gene experiments and screened them in patients.

Free Research Field

眼科学

Academic Significance and Societal Importance of the Research Achievements

黄斑（部）は網膜の中心であり、最も視力の良好な部分を示す。黄斑の発達は視覚を用いた生活の根幹であり、先天的な視機能の障害である黄斑低形成では罹患児の教育や社会参加の大きな障害となる。黄斑低形成の原因となる遺伝子を解明し、その具体的な発症機序を解明することは本疾患の将来の治療や予防の策定に有用である。さらに、黄斑変性や糖尿病網膜症など、視力障害をきたすさまざまな網膜疾患に対する治療や視覚的リハビリテーションの開発にも有益な情報を提供する。