Research of gene arrays in congenital red-green color blindness

2022 Fiscal Year Final Research Report

• Project/Area Number: 19K18842
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 56060:Ophthalmology-related
• Research Institution: Shiga University of Medical Science
• Principal Investigator: Iwasa Maki 滋賀医科大学, 医学部, 助教 (70792844)
• Project Period (FY): 2019-04-01 – 2023-03-31
• Keywords: 先天赤緑色覚異常

Outline of Final Research Achievements

We performed a visual substance gene analysis of Japanese congenital red-green color blindness. The subjects were 2 patients with protanopia, 4 patients with protanomaly, 9 patients with deuteranopia, and 11 patients with deuteranomaly diagnosed with anomaloscope. Phenotype and genotype matched in 77% (20/26), but 6 cases had different anomaloscope diagnoses and genotypes. In six cases, genetic analysis did not reveal the cause of color blindness, and no new genetic mutations were found. The diversity of a visual substance genes was suggested.

Free Research Field

眼科

Academic Significance and Societal Importance of the Research Achievements

先天赤緑色覚異常はX連鎖性潜性遺伝で日本人男性の20人に1人の割合で認められる。現在有用な治療法はなく、色覚特性も個人差が大きく眼科診療のなかでは正確な指導を行うことが難しい疾患である。臨床ではアノマロスコープによる確定診断が確率されているが、色覚異常のメカニズムを遺伝的観点から解明することは、重要である。本研究で解析された日本人先天色覚異常の遺伝的多様性が、将来治療につながる可能性がある。