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
Accidental retinal laser injuries a re easily diagnosed when there are known laser sources,typic al macular injuries,and visual deficits consistent with retinal findings.Deci-sions are more difficult when retinal find...Accidental retinal laser injuries a re easily diagnosed when there are known laser sources,typic al macular injuries,and visual deficits consistent with retinal findings.Deci-sions are more difficult when retinal findings are subtle or absent,despite reported visual pro blems and somatic complaints.Inaccurate diagnosis o f an ocular laser injury can precipitate a costly,lengthy se quence of medical and legal problems.Analysis of laser-tissue interactions and the characteristics of unambiguous retinal laser injuries provide6key questions to facilitate diffic ult diagnoses.Case reports demonstrate the usefulness of answering these questions before making diagnostic decisions.Retinal laser lesions that cause serious visual pr oblems are readily ap-parent ophthalmoscopically and angiographically.Acci-dental,intentional,or clinical re tinal laser lesions do not cause chronic eye,face,or head pain s.Diagnosis of a retinal laser injury should be evidence based,not a matter of conjecture or speculation.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Accidental retinal laser injuries a re easily diagnosed when there are known laser sources,typic al macular injuries,and visual deficits consistent with retinal findings.Deci-sions are more difficult when retinal findings are subtle or absent,despite reported visual pro blems and somatic complaints.Inaccurate diagnosis o f an ocular laser injury can precipitate a costly,lengthy se quence of medical and legal problems.Analysis of laser-tissue interactions and the characteristics of unambiguous retinal laser injuries provide6key questions to facilitate diffic ult diagnoses.Case reports demonstrate the usefulness of answering these questions before making diagnostic decisions.Retinal laser lesions that cause serious visual pr oblems are readily ap-parent ophthalmoscopically and angiographically.Acci-dental,intentional,or clinical re tinal laser lesions do not cause chronic eye,face,or head pain s.Diagnosis of a retinal laser injury should be evidence based,not a matter of conjecture or speculation.
