2023 Fiscal Year Final Research Report
Whole exome sequencing and identification of disease phenotypes for the treatment of progressive inherited retinal disorders
| Project/Area Number |
21K09756
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Review Section |
Basic Section 56060:Ophthalmology-related
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| Research Institution | Jikei University School of Medicine |
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Principal Investigator |
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| Project Period (FY) |
2021-04-01 – 2024-03-31
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| Keywords | 遺伝性網膜疾患 / 黄斑ジストロフィ / 遺伝子治療 / ベータカロテン治療 / 次世代シークエンサ / 全エクソーム解析 / 視サイクル |
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| Outline of Final Research Achievements |
In inherited retinal dystrophy caused by variants in genes controlling the visual cycle (such as RPE65 and RDH5), treatment with 9-cis-beta-carotene has been reported. Therefore, we focused on RDH5-associated fundus albipunctatus (FAP), which is common in Japanese people and frequently associated with macular/cone dystrophy. We initiated a prospective study on the effect of 9-cis-beta-carotene treatment in patients with RDH5- associated FAP. We compared the amplitudes of various waveforms in electroretinograms at baseline (before treatment), three months, and one year after treatment. The results showed a statistically significant reduction in amplitude. Based on these findings, 9-cis-beta-carotene treatment for RDH5-associated FAP is not necessarily considered beneficial.
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| Free Research Field |
眼科学、遺伝性網膜ジストロフィ
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| Academic Significance and Societal Importance of the Research Achievements |
今回、RDH5関連白点状眼底症例の23眼に対する9-cis-ベータカロテンの1年間の治療によって、網膜電図の各種振幅が有意に低下することを明らかにした。過去の研究で、視サイクルを制御する遺伝子(RDH5など)変異による網膜ジストロフィでは、9-cis-ベータカロテン治療によって視機能が改善する症例も報告されている。RDH5関連白点状眼底において、1年の自然経過で、振幅が低下したとは考えにくく、9-cis-ベータカロテン治療は、網膜電図による評価という観点では、必ずしも有益とはならない可能性が示唆された。
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