{"title":"“Stargardt 's无药可治”:基因证实的Abca 4突变患者的预后和康复","authors":"","doi":"10.31707/vdr2020.6.3.p237","DOIUrl":null,"url":null,"abstract":"Background: Stargardt’s macular dystrophy is an autosomal recessive inherited retinal\ndystrophy associated with mutation in the ABCA4 gene. Although there are no current\nFDA approved treatments or cures for patients with Stargardt’s macular dystrophy, current research avenues include nutritional supplementation, drug therapies, and gene therapy.\nCase Report: A 58 year old African American female presents with suspected Stargardt’s with visual reports for comprehensive rehabilitation, including magnification assessment and genetic counseling of a patient with Stargardt’s macular dystrophy.\nConclusion: Genetic testing provides insight to the phenotype and magnification determination provides significant rehabilitation to these individuals.","PeriodicalId":91423,"journal":{"name":"Vision development and rehabilitation","volume":"353 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2020-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"“ There is No Cure for Stargardt’s”: The Prognosis and Rehabilitation of a Patient with Genetically Confirmed Abca 4 Mutations\",\"authors\":\"\",\"doi\":\"10.31707/vdr2020.6.3.p237\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Background: Stargardt’s macular dystrophy is an autosomal recessive inherited retinal\\ndystrophy associated with mutation in the ABCA4 gene. Although there are no current\\nFDA approved treatments or cures for patients with Stargardt’s macular dystrophy, current research avenues include nutritional supplementation, drug therapies, and gene therapy.\\nCase Report: A 58 year old African American female presents with suspected Stargardt’s with visual reports for comprehensive rehabilitation, including magnification assessment and genetic counseling of a patient with Stargardt’s macular dystrophy.\\nConclusion: Genetic testing provides insight to the phenotype and magnification determination provides significant rehabilitation to these individuals.\",\"PeriodicalId\":91423,\"journal\":{\"name\":\"Vision development and rehabilitation\",\"volume\":\"353 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Vision development and rehabilitation\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.31707/vdr2020.6.3.p237\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Vision development and rehabilitation","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.31707/vdr2020.6.3.p237","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
“ There is No Cure for Stargardt’s”: The Prognosis and Rehabilitation of a Patient with Genetically Confirmed Abca 4 Mutations
Background: Stargardt’s macular dystrophy is an autosomal recessive inherited retinal
dystrophy associated with mutation in the ABCA4 gene. Although there are no current
FDA approved treatments or cures for patients with Stargardt’s macular dystrophy, current research avenues include nutritional supplementation, drug therapies, and gene therapy.
Case Report: A 58 year old African American female presents with suspected Stargardt’s with visual reports for comprehensive rehabilitation, including magnification assessment and genetic counseling of a patient with Stargardt’s macular dystrophy.
Conclusion: Genetic testing provides insight to the phenotype and magnification determination provides significant rehabilitation to these individuals.