Objective:To describe young monozy gotic twin sisters with fundus albipunctatus(a type of autosomal recessive sta-tionary night blindness caused by mu tations of the 11-cis retinol dehydrogenase geneRDH5)associated wi...Objective:To describe young monozy gotic twin sisters with fundus albipunctatus(a type of autosomal recessive sta-tionary night blindness caused by mu tations of the 11-cis retinol dehydrogenase geneRDH5)associated with cone dystrophy,previously reported in e lderly men.Methods:Ophthalmologic examinations were p erformed,and the RDH5gene was analyzed by direct genomic sequencing.Results:Twin 23-year-old sisters with high myopic refrac-tive errors of approximately -13dio pters were diagnosed as having fundus albipunctatus.Their photopic electroretino-graphic responses were markedly red uced,and cone dys-trophy was diagnosed.One twin had ma cular degeneration with reduced best-corrected visual acuity,while the other twin had normal maculae with good vis ual acuity.A com-pound heterozygous mutation,Val132Met and Arg280His,in the RDH5gene was found in both sisters.Conclusions:Cone dystrophy can be present in pati ents with fundus al-bipunctatus,not only elderly men bu t also young women.The clinical severity differed betw een monozygotic twins with fundus albipunctatus and cone d ystrophy.Clinical Relevance:The patients sex is not critical for the presence of cone dystrophy in patients with fu ndus albipunctatus.The discordant findings in the twins indicate that factors other than genetics influenced the p henotype.展开更多
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Objective:To describe young monozy gotic twin sisters with fundus albipunctatus(a type of autosomal recessive sta-tionary night blindness caused by mu tations of the 11-cis retinol dehydrogenase geneRDH5)associated with cone dystrophy,previously reported in e lderly men.Methods:Ophthalmologic examinations were p erformed,and the RDH5gene was analyzed by direct genomic sequencing.Results:Twin 23-year-old sisters with high myopic refrac-tive errors of approximately -13dio pters were diagnosed as having fundus albipunctatus.Their photopic electroretino-graphic responses were markedly red uced,and cone dys-trophy was diagnosed.One twin had ma cular degeneration with reduced best-corrected visual acuity,while the other twin had normal maculae with good vis ual acuity.A com-pound heterozygous mutation,Val132Met and Arg280His,in the RDH5gene was found in both sisters.Conclusions:Cone dystrophy can be present in pati ents with fundus al-bipunctatus,not only elderly men bu t also young women.The clinical severity differed betw een monozygotic twins with fundus albipunctatus and cone d ystrophy.Clinical Relevance:The patients sex is not critical for the presence of cone dystrophy in patients with fu ndus albipunctatus.The discordant findings in the twins indicate that factors other than genetics influenced the p henotype.
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.
