Search for genetic causes and autoantibodies of retinitis pigmentosa sine pigmento

2015 Fiscal Year Final Research Report

• Project/Area Number: 26893018
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Ophthalmology
• Research Institution: Tohoku University
• Principal Investigator: Nishiguchi Koji 東北大学, 医学(系)研究科(研究院), 准教授 (30447825)
• Project Period (FY): 2014-08-29 – 2016-03-31
• Keywords: 網膜変性 / 視細胞 / 網膜色素変性症 / 自己免疫疾患

Outline of Final Research Achievements

Whole exome analysis was performed on 7 patients with retinitis pigmentosa (RP) sine pigmento. Genetic analysis of approximately 150 reported causative genes revealed no pathogenetic mutations in all patients.
Next, we assessed the presence of 8 known antibodies against 8 known autoimmune retinopathy related antigens and quantified total anti retinal antibodies using patients’ serum. The search for autoantibody is still underway. Dot blot revealed increased total retinal antibodies in RP sine pigmento compared to RP with pigments.

Free Research Field

視覚先端医療学