2016 Fiscal Year Final Research Report
Development of genetic diagnosis for Japanese Retinitis Pigmentosa patients using next generation sequencer
| Project/Area Number |
26462659
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Multi-year Fund |
|---|
| Section | 一般 |
|---|
| Research Field |
Ophthalmology
|
|---|
| Research Institution | Hamamatsu University School of Medicine |
|---|
Principal Investigator |
|
|---|
| Research Collaborator |
KURATA KENTARO
|
|---|
| Project Period (FY) |
2014-04-01 – 2017-03-31
|
| Keywords | 網膜色素変性 / 次世代シークエンサー / 遺伝子変異解析 |
|---|
| Outline of Final Research Achievements |
Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease. This study was conducted to investigate genetic and clinical features in 2 unrelated Japanese RP patients. To identify causative mutations, 74 genes known to cause RP or Leber congenital amaurosis were examined by targeted next-generation sequencing (NGS). Clinical analyses were based on ophthalmic examination, fundus photography, and electroretinography.
Clinical courses were similar in both patients. The onset of nyctalopia occurred in the first decade. Fundus examination showed typical RP. Although visual acuity was relatively preserved even into the fourth decade, visual field areas exhibited rapid deterioration in their mid-teens, and subsequent severe concentric constriction in the third decade. Mutation analysis revealed both patients’ conditions were due to PRPF31 mutations resulting in autosomal dominant RP. This study suggests that our targeted-NGS approach could be useful for genetic diagnosis for RP.
|
| Free Research Field |
眼科遺伝学
|
