Ophthalmological and systemic investigations of autosomal dominant optic atrophy with OPA1 mutations.

2017 Fiscal Year Final Research Report

• Project/Area Number: 26462674
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: 独立行政法人国立病院機構(東京医療センター臨床研究センター)
• Principal Investigator: Tsunoda Kazushige 独立行政法人国立病院機構(東京医療センター臨床研究センター), その他部局等, 部長 (30255525)
• Co-Investigator(Kenkyū-buntansha): 林 孝彰 東京慈恵会医科大学, 医学部, 講師 (10297418)
• Research Collaborator: 大出 尚郎 慶應義塾大学 ; 松永 達雄 東京医療センター ; 安富 大祐 東京医療センター
• Project Period (FY): 2014-04-01 – 2018-03-31
• Keywords: 優性視神経萎縮症 / OPA1

Outline of Final Research Achievements

We have investigated systemic complications of autosomal dominant optic atrophy (DOA) in the JEGC cohort with 30 institutes. Three cases with DOA-plus disease were included, and all of them had AN. One case had both ataxia and progressive extraocular ophthalmoplegia. In the genetic analysis of 31 cases with all the DOA in National Institute of Sensory Organs and Jikei medical school, type of variants was either missense, nonsense, splice-site, or in-del. However, Patients with DOA-plus harbored only missense mutations.

Free Research Field

眼科学