J W Delleman, E M Bleeker-Wagemakers, A W van Veelen
{"title":"晶状体混浊表明眼-脑-肾(Lowe)综合征的携带者状态。","authors":"J W Delleman, E M Bleeker-Wagemakers, A W van Veelen","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Three families with a total of five patients with Lowe's syndrome are described. We tried to trace female heterozygotes by ophthalmological abnormalities in order to realize prevention of this serious X-chromosomal recessive disease. Of the fourteen female relatives examined, eight showed pathological opacities of the lens, two of these being proven heterozygotes. In our opinion, in Lowe's syndrome, examination of the eyes can play an important role in the detection of heterozygotes.</p>","PeriodicalId":76019,"journal":{"name":"Journal of pediatric ophthalmology","volume":"14 4","pages":"205-12"},"PeriodicalIF":0.0000,"publicationDate":"1977-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome.\",\"authors\":\"J W Delleman, E M Bleeker-Wagemakers, A W van Veelen\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Three families with a total of five patients with Lowe's syndrome are described. We tried to trace female heterozygotes by ophthalmological abnormalities in order to realize prevention of this serious X-chromosomal recessive disease. Of the fourteen female relatives examined, eight showed pathological opacities of the lens, two of these being proven heterozygotes. In our opinion, in Lowe's syndrome, examination of the eyes can play an important role in the detection of heterozygotes.</p>\",\"PeriodicalId\":76019,\"journal\":{\"name\":\"Journal of pediatric ophthalmology\",\"volume\":\"14 4\",\"pages\":\"205-12\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1977-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of pediatric ophthalmology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of pediatric ophthalmology","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome.
Three families with a total of five patients with Lowe's syndrome are described. We tried to trace female heterozygotes by ophthalmological abnormalities in order to realize prevention of this serious X-chromosomal recessive disease. Of the fourteen female relatives examined, eight showed pathological opacities of the lens, two of these being proven heterozygotes. In our opinion, in Lowe's syndrome, examination of the eyes can play an important role in the detection of heterozygotes.
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