Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens
Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens
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DOI：
10.1016/j.ajo.2004.12.011
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发表时间：
2005-06-01
影响因子：
4.2
通讯作者：
Miyake, Y
中科院分区：
文献类型：
--
作者：
Nakamura, M;Lin, J;Miyake, Y
目得：报告一个新的突变RLBP 1基因和光学相干断层扫描结果在日本患者视网膜炎点状albescens.Design：观察病例report.METHODS：RLBP 1基因进行了分析，通过直接基因组测序。结果：在患者中发现了RLBPI基因的复合杂合突变。突变是一种新的错义Arg103Trp突变和错义Arg234Trp突变，这是Bothnia营养不良的致病突变。患者眼底可见大量白色斑点伴弥漫性视网膜斑点和双侧黄斑变性。在12年的随访中，她的视觉功能逐渐恶化。光学相干断层扫描显示视网膜厚度减少，尤其是感光层。结论：RLBP 1基因的一个新的突变被发现在日本患者的视网膜炎斑点状albescens。光学相干断层扫描仪检测外视网膜的退行性变化。(c)2005年，Elsevier Inc. All rights reserved.
PURPOSE: To report a novel mutation in the RLBP1 gene and optical coherence tomographic findings in a Japanese patient with retinitis punctata albescens.DESIGN: Observational case report.METHODS: The RLBP1 gene was analyzed by direct genomic sequencing. A complete oplithalmologic examination was performed.RESULTS: Compound heterozygous mutations in the RLBPI gene were identified in the patient. The mutations were a novel missense Arg103Trp mutation and a missense Arg234Trp mutation, the causative mutation of Bothnia dystrophy. The patient's fundi showed numerous white dots with diffuse retinal mottling and bilateral macular degeneration. Her visual function deteriorated progressively during 12,year follow-up. Optical coherence tomography demonstrated decreased retinal thickness, especially the photoreceptor layer.CONCLUSION: A novel mutation in RLBP1 gene was found in a Japanese patient with retinitis punctata albescens. Degenerative changes of the outer retina were detected by optical coherence tomography. (c) 2005 by Elsevier Inc. All rights reserved.