Andrew S.H. Tsai, R.V. Paul Chan, M. Blair, Michael J. Shapiro
{"title":"一名 LRP5 和 TSPAN12 发生新型突变的儿童出现渐进性 FEVR 表型的侵袭性发病","authors":"Andrew S.H. Tsai, R.V. Paul Chan, M. Blair, Michael J. Shapiro","doi":"10.1177/24741264241246864","DOIUrl":null,"url":null,"abstract":"Purpose: To describe a patient with familial exudative vitreoretinopathy (FEVR) and the treatment course. Methods: A case was evaluated. Results: A 3-year-old boy presented with severe onset of FEVR, with a subhyaloid hemorrhage in 1 eye and tractional retinal detachment (TRD) in the fellow eye. Aggressive treatment with retinal photocoagulation and repeated injections of intravitreal bevacizumab resulted in stability of the retinal disease. Lens-sparing vitrectomy was performed for the TRD. The treatment effect was durable, and the patient retained useful vision in the better eye at 19 years of age. A subsequent genetic analysis showed 2 novel heterozygous missense mutations in LRP5 and TSPAN12. Conclusions: The presence of 2 novel mutations associated with severe FEVR identified in our patient is in agreement with in vitro studies showing that a more severe reduction in Norrin/β-catenin signal activity occurs with the combination of 2 mutations.","PeriodicalId":17919,"journal":{"name":"Journal of VitreoRetinal Diseases","volume":null,"pages":null},"PeriodicalIF":0.5000,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Aggressive Onset of a Progressive FEVR Phenotype in a Child With Novel Mutations in LRP5 and TSPAN12\",\"authors\":\"Andrew S.H. Tsai, R.V. Paul Chan, M. Blair, Michael J. Shapiro\",\"doi\":\"10.1177/24741264241246864\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Purpose: To describe a patient with familial exudative vitreoretinopathy (FEVR) and the treatment course. Methods: A case was evaluated. Results: A 3-year-old boy presented with severe onset of FEVR, with a subhyaloid hemorrhage in 1 eye and tractional retinal detachment (TRD) in the fellow eye. Aggressive treatment with retinal photocoagulation and repeated injections of intravitreal bevacizumab resulted in stability of the retinal disease. Lens-sparing vitrectomy was performed for the TRD. The treatment effect was durable, and the patient retained useful vision in the better eye at 19 years of age. A subsequent genetic analysis showed 2 novel heterozygous missense mutations in LRP5 and TSPAN12. Conclusions: The presence of 2 novel mutations associated with severe FEVR identified in our patient is in agreement with in vitro studies showing that a more severe reduction in Norrin/β-catenin signal activity occurs with the combination of 2 mutations.\",\"PeriodicalId\":17919,\"journal\":{\"name\":\"Journal of VitreoRetinal Diseases\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2024-04-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of VitreoRetinal Diseases\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/24741264241246864\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of VitreoRetinal Diseases","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/24741264241246864","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
Aggressive Onset of a Progressive FEVR Phenotype in a Child With Novel Mutations in LRP5 and TSPAN12
Purpose: To describe a patient with familial exudative vitreoretinopathy (FEVR) and the treatment course. Methods: A case was evaluated. Results: A 3-year-old boy presented with severe onset of FEVR, with a subhyaloid hemorrhage in 1 eye and tractional retinal detachment (TRD) in the fellow eye. Aggressive treatment with retinal photocoagulation and repeated injections of intravitreal bevacizumab resulted in stability of the retinal disease. Lens-sparing vitrectomy was performed for the TRD. The treatment effect was durable, and the patient retained useful vision in the better eye at 19 years of age. A subsequent genetic analysis showed 2 novel heterozygous missense mutations in LRP5 and TSPAN12. Conclusions: The presence of 2 novel mutations associated with severe FEVR identified in our patient is in agreement with in vitro studies showing that a more severe reduction in Norrin/β-catenin signal activity occurs with the combination of 2 mutations.