Tamíres Able Carmona, Marcella Polisuk, Larissa de Sá Barreto, Daniele Bravim Longo, Renato Sztern Queiroz, R. S. Cavalcanti
{"title":"Esotropia, nystagmus and optic disk staphyloma in Donnai-Barrow syndrome","authors":"Tamíres Able Carmona, Marcella Polisuk, Larissa de Sá Barreto, Daniele Bravim Longo, Renato Sztern Queiroz, R. S. Cavalcanti","doi":"10.37039/1982.8551.20230014","DOIUrl":null,"url":null,"abstract":"A 12-year-old boy with Donnai-Barrow syndrome diagnosed intra-uterus presented esotropia, high myopia, nystagmus, and optic disk staphyloma in an ophthalmologic examination. The patient had associated Fanconi syndrome and sensorineural hearing loss as well as facial manifestations as hypertelorism, downward slanting of palpebral fissures and low ear implantation. Magnetic resonance imaging revealed agenesis of the corpus callosum. To our knowledge, this is the first reported case associated with esotropia, nystagmus, and optic disk staphyloma","PeriodicalId":49619,"journal":{"name":"Revista Brasileira De Oftalmologia","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Revista Brasileira De Oftalmologia","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.37039/1982.8551.20230014","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
A 12-year-old boy with Donnai-Barrow syndrome diagnosed intra-uterus presented esotropia, high myopia, nystagmus, and optic disk staphyloma in an ophthalmologic examination. The patient had associated Fanconi syndrome and sensorineural hearing loss as well as facial manifestations as hypertelorism, downward slanting of palpebral fissures and low ear implantation. Magnetic resonance imaging revealed agenesis of the corpus callosum. To our knowledge, this is the first reported case associated with esotropia, nystagmus, and optic disk staphyloma
期刊介绍：
A Revista Brasileira de Oftalmologia (Rev Bras Oftalmol.) - ISSN 0034-7280, publicação científica da Sociedade Brasileira de Oftalmologia, se propõe a divulgar artigos que contribuam para o aperfeiçoamento e o desenvolvimento da prática, da pesquisa e do ensino da Oftalmologia e de especialidades afins. Todos os manuscritos, após aprovação pelos Editores serão avaliados por dois ou três revisores qualificados (peer review), sendo o anonimato garantido em todo o processo de julgamento.
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