Clinical and genetic characterization of inherited cone dysfunction syndrome

2019 Fiscal Year Final Research Report

• Project/Area Number: 17K11434
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: Jikei University School of Medicine
• Principal Investigator: Hayashi Takaaki 東京慈恵会医科大学, 医学部, 准教授 (10297418)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Keywords: 錐体ジストロフィ / 全エクソーム解析 / 遺伝性網膜疾患 / 網膜電図 / 遺伝子変異 / 黄斑萎縮

Outline of Final Research Achievements

Inherited cone dysfunction syndrome such as cone dystrophy leads to progressive loss of visual acuity. Development of new therapies is highly expected for its incurable condition. To date, molecular genetic mechanisms of cone dystrophy have not been elucidated because of a variety of causative gene mutations. In this study, we performed molecular genetic analysis to find out causative gene mutations and identified genotype phenotype correlations in some conditions of cone dystrophy. Our results revealed that disease onset and progressive rates depended on causative gene mutations. In conclusion, we confirmed that our outcomes will bring important suggestions for timing of intervention when novel treatments are available for patients with cone dystrophy.

Free Research Field

眼科学

Academic Significance and Societal Importance of the Research Achievements

本研究結果から、日本人における錐体ジストロフィの原因が多岐にわたることが判明した。具体的には、GUCA1A関連優性遺伝性錐体ジストロフィは比較的若年で発症し進行が早いこと、非進行性の停在性疾患と考えられたRDH5関連眼底白点症は、進行性の黄斑部障害・錐体機能低下が起こること、青錐体一色覚の分子病態は欧米のそれとは異なることなどを明らかにした。本研究成果は、遺伝子依存的・特異的な遺伝子(補充)治療やベータカロテン療法の基盤研究に向け有意義なものになると確信する。