1例日本白点状视网膜炎患者的RLBP1基因新突变

• 作 者: Nakamura M. Ito Y. Miyake Y. 杨秀梅
• 机 构: Department of Ophthalmol ogy Nagoya University Graduate School of Medicine 65 Tsuruma-cho Showa-ku
• 出 处: 世界核心医学期刊文摘.眼科学分册
• 发表日期: 2005年10期
• 关键词: 视网膜炎 白点 光感受器 视网膜 视网膜外层 眼部检查 基因组测序 黄斑变性 视网膜厚度 精氨酸

PURPOSE: To report a novel mutation in the RLBP1 gene and optical coherence to mographic findings in a Japanese patient with retinitis punctata albescens. DESI GN: Observational case report. METHODS: The RLBP1 gene was analyzed by direct ge nomic sequencing. A complete ophthalmologic examination was performed. RESULTS: Compound heterozygous mutations in the RLBP1 gene were identified in the patient . The mutations were a novel missense Arg103Trp mutation and a missense Arg234Tr p mutation, the causative mutation of Bothnia dystrophy. The patient’s fundi sh owed numerouswhite dots with diffuse retinalmottling and bilateralmacular degene ration. Her visual function deteriorated progressively during 12-year follow-u p. Optical coherence tomography demonstrated decreased retinal thickness, especi ally the photoreceptor layer. CONCLUSION: A novel mutation in RLBP1 gene was fou nd in a Japanese patient with retinitis punctata albescens. Degenerative changes of the outer retina were detected by optical coherence tomography.

PURPOSE: To report a novel mutation in the RLBP1 gene and optical coherence to mographic findings in a Japanese patient with retinitis punctata albescens. DESI GN: Observational case report. METHODS: The RLBP1 gene was analyzed by direct genomic sequencing. A complete ophthalmologic examination was performed. RESULTS: Compound heterozygous mutations in the RLBP1 gene were identified in the patient. The mutations were a novel missense Arg103Trp mutation and a missense Arg234Tr p mutation, the causative mutation of Bothnia dystrophy. The patient’s fundi sh owed numerouswhite dots with diffuse retinalmottling and bilateral maccular degeneration. Her visual function deteriorated progressively during 12-year follow-u p. Optical coherence tomography demonstrated decreased retinal thickness, especi ally the photoreceptor layer. CONCLUSION: A novel mutation in RLBP1 gene was fou nd in a Japanese patient with retinitis punctata albescens. Degenerative changes of the outer retina were detected by optical coherence tomography.