Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations

• Material Type: 博士論文
• ISSN: 2054-345X
• Title: Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations
• Volume: 6
• Author/Editor: 宮道, 大督
• Author Heading: 宮道, 大督
• Publication, Distribution, etc.: Nature Publishing Group
• Publication Date: 2019-06-27
• Publication Date (W3CDTF): 2019-06-27
• Alternative Title: RPGRIP1遺伝子変異によるレーバー先天盲の網膜構造
• Periodical title: Human genome variation
• Degree grantor/type: 浜松医科大学
• Date Granted: 2020-02-13
• Date Granted (W3CDTF): 2020-02-13
• Dissertation Number: 乙第568号
• Degree Type: 博士（医学）
• Conferring No. (Dissertation): 乙第568号
• Text Language Code: eng
• Subject Heading: Genetic testing; Targeted gene repair
• Target Audience: 一般
• Note (General): doctoral; 医学系研究科; This study aimed to evaluate retinal structure in the early stage of Leber's congenital amaurosis (LCA) caused by RPGRIP1 mutations. Four patients from two families were included. Case 1 was a 13-year-old girl, cases 2 and 3 were 7-year-old monozygotic twin brothers of case 1, and case 4 was a 17-year-old boy. Comprehensive ophthalmic examinations were performed, including visual acuity measurements, perimetry, electroretinography (ERG), and optical coherence tomography (OCT). To identify potential pathogenic mutations, 74 genes known to cause retinitis pigmentosa or LCA were assessed using targeted next-generation sequencing. OCT showed photoreceptor outer nuclear layer (ONL) thinning in all patients. The lamellar structure was retained in all patients, whereas the ellipsoid zone was extinguished in cases 1, 2, and 3. In case 4, the ellipsoid zone was maintained at 9 years of age but became blurred at 17 years of age. In case 1, OCT indicated slight photoreceptor ONL thinning during the period between 7 and 11 years of age. Mutation analysis revealed RPGRIP1 mutations as the cause for autosomal recessive LCA in all patients. Photoreceptor ONL on OCT is relatively well preserved in the early stage of LCA caused by RPGRIP1 mutations.
• DOI: info:doi/10.1038/s41439-019-0064-8; https://doi.org/info:doi/10.1038/s41439-019-0064-8
• Persistent ID (NDL): info:ndljp/pid/11498574; https://dl.ndl.go.jp/pid/11498574
• Collection: 障害者向け資料
• Collection (Materials For Handicapped People:1): テキストデータ
• Collection (particular): 国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文; https://dl.ndl.go.jp/collections/A00014
• Acquisition Basis: 博士論文（自動収集）
• Date Accepted (W3CDTF): 2020-06-07T00:39:19+09:00
• Date Created (W3CDTF): 2020-04-28
• Format (IMT): application/pdf
• Access Restrictions: 国立国会図書館内限定公開
• Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
• Availability of remote photoduplication service: 可
• Periodical Title (URI): http://hdl.handle.net/10271/00003721; https://hama-med.repo.nii.ac.jp/records/3589
• Data Provider (Database): 国立国会図書館 : 国立国会図書館デジタルコレクション; https://dl.ndl.go.jp

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2023-12-09 再収集