Roles of EYS in retinitis pigmentosa

2017 Fiscal Year Final Research Report

• Project/Area Number: 16H07505
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Ophthalmology
• Research Institution: Foundation for Biomedical Research and Innovation
• Principal Investigator: Maeda Akiko 公益財団法人先端医療振興財団, その他部局等, 講師 (40776423)
• Project Period (FY): 2016-08-26 – 2018-03-31
• Keywords: EYS / 網膜色素変性 / 遺伝子診断 / iPS細胞 / 遺伝性網膜疾患

Outline of Final Research Achievements

Patients with EYS-RP carry nonsense variants at the high rate and they displayed a severe classical type of RP phenotype. Moreover, patients with EYS nonsense variants have more severe RP as compared with patients with missense variants. We performed a new genetic analysis with a panel and more than 22% of subjects were identified as EYS-RP.
We developed anti-EYS antibody and carried out westernblotting and immunohistochemistry. EYS expression was detected in bovine retina by westernblotting and in the photoreceptor outer segments in monkey retinas.
We established iPSC from 3 patients with EYS-RP. These iPSC were differentiated into three-dimensionalretinal organoids. Until now, we were not able to detect clear RP phenotype in these retinal organoids.

Free Research Field

眼科学