{"title":"家族性杜安氏回缩综合症。","authors":"N L Busch, C S Envani, K A Frantz, D H Ireland","doi":"","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Duane's retraction syndrome (DRS) has been described as a clinical entity for more than a century. Although the majority of cases occur spontaneously, some cases of DRS are inherited.</p><p><strong>Case reports: </strong>A young Romanian boy with a known left abduction deficit was determined to have DRS. On thorough examination of other family members, it was discovered that his younger brother and father also had the syndrome. Clinical findings of the affected family members are described.</p><p><strong>Results: </strong>All three family members showed left esotropia in primary gaze, along with a compromised ability to turn the left eye outward. They also demonstrated an anomalous head turn to the left, and mild narrowing of the palpebral fissure and retraction of the globe on adduction. These are all classic signs of unilateral DRS.</p><p><strong>Conclusion: </strong>These findings provide further evidence of an autosomal dominant mode of inheritance in some cases of DRS.</p>","PeriodicalId":17208,"journal":{"name":"Journal of the American Optometric Association","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"1999-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Familial Duane's retraction syndrome.\",\"authors\":\"N L Busch, C S Envani, K A Frantz, D H Ireland\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Duane's retraction syndrome (DRS) has been described as a clinical entity for more than a century. Although the majority of cases occur spontaneously, some cases of DRS are inherited.</p><p><strong>Case reports: </strong>A young Romanian boy with a known left abduction deficit was determined to have DRS. On thorough examination of other family members, it was discovered that his younger brother and father also had the syndrome. Clinical findings of the affected family members are described.</p><p><strong>Results: </strong>All three family members showed left esotropia in primary gaze, along with a compromised ability to turn the left eye outward. They also demonstrated an anomalous head turn to the left, and mild narrowing of the palpebral fissure and retraction of the globe on adduction. These are all classic signs of unilateral DRS.</p><p><strong>Conclusion: </strong>These findings provide further evidence of an autosomal dominant mode of inheritance in some cases of DRS.</p>\",\"PeriodicalId\":17208,\"journal\":{\"name\":\"Journal of the American Optometric Association\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1999-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of the American Optometric Association\",\"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 the American Optometric Association","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Background: Duane's retraction syndrome (DRS) has been described as a clinical entity for more than a century. Although the majority of cases occur spontaneously, some cases of DRS are inherited.
Case reports: A young Romanian boy with a known left abduction deficit was determined to have DRS. On thorough examination of other family members, it was discovered that his younger brother and father also had the syndrome. Clinical findings of the affected family members are described.
Results: All three family members showed left esotropia in primary gaze, along with a compromised ability to turn the left eye outward. They also demonstrated an anomalous head turn to the left, and mild narrowing of the palpebral fissure and retraction of the globe on adduction. These are all classic signs of unilateral DRS.
Conclusion: These findings provide further evidence of an autosomal dominant mode of inheritance in some cases of DRS.