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 wa...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.展开更多
文摘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.
