{"title":"TUBA1A管蛋白病导致视神经发育不全和双侧胎儿血管持续存在。","authors":"David A Ramirez, William V Anninger, Drew Scoles","doi":"10.1097/ICB.0000000000001540","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>To describe a case of TUBA1A -associated optic nerve hypoplasia and persistent fetal vasculature.</p><p><strong>Methods: </strong>Observational case report.</p><p><strong>Results: </strong>A female, full-term infant was found to have a Dandy-Walker malformation with cerebellar and brainstem hypoplasia, ventriculomegaly, and lissencephaly. Her ophthalmic examination was notable for persistent fetal vasculature, optic nerve hypoplasia, vitreous hemorrhage, and peripheral retinal nonperfusion. Subsequent genetic testing revealed a TUBA1A genetic variant.</p><p><strong>Conclusion: </strong>Persistent fetal vasculature, peripheral retinal vascular abnormalities, and optic nerve hypoplasia may be associated with TUBA1A variants. These patients should be carefully evaluated with dilated retinal examination and fluorescein angiography to detect retinal perfusion abnormalities requiring treatment.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":"264-266"},"PeriodicalIF":0.0000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"OPTIC NERVE HYPOPLASIA AND BILATERAL PERSISTENT FETAL VASCULATURE DUE TO TUBA1A TUBULINOPATHY.\",\"authors\":\"David A Ramirez, William V Anninger, Drew Scoles\",\"doi\":\"10.1097/ICB.0000000000001540\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>To describe a case of TUBA1A -associated optic nerve hypoplasia and persistent fetal vasculature.</p><p><strong>Methods: </strong>Observational case report.</p><p><strong>Results: </strong>A female, full-term infant was found to have a Dandy-Walker malformation with cerebellar and brainstem hypoplasia, ventriculomegaly, and lissencephaly. Her ophthalmic examination was notable for persistent fetal vasculature, optic nerve hypoplasia, vitreous hemorrhage, and peripheral retinal nonperfusion. Subsequent genetic testing revealed a TUBA1A genetic variant.</p><p><strong>Conclusion: </strong>Persistent fetal vasculature, peripheral retinal vascular abnormalities, and optic nerve hypoplasia may be associated with TUBA1A variants. These patients should be carefully evaluated with dilated retinal examination and fluorescein angiography to detect retinal perfusion abnormalities requiring treatment.</p>\",\"PeriodicalId\":53580,\"journal\":{\"name\":\"Retinal Cases and Brief Reports\",\"volume\":\" \",\"pages\":\"264-266\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Retinal Cases and Brief Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1097/ICB.0000000000001540\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Retinal Cases and Brief Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/ICB.0000000000001540","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
OPTIC NERVE HYPOPLASIA AND BILATERAL PERSISTENT FETAL VASCULATURE DUE TO TUBA1A TUBULINOPATHY.
Purpose: To describe a case of TUBA1A -associated optic nerve hypoplasia and persistent fetal vasculature.
Methods: Observational case report.
Results: A female, full-term infant was found to have a Dandy-Walker malformation with cerebellar and brainstem hypoplasia, ventriculomegaly, and lissencephaly. Her ophthalmic examination was notable for persistent fetal vasculature, optic nerve hypoplasia, vitreous hemorrhage, and peripheral retinal nonperfusion. Subsequent genetic testing revealed a TUBA1A genetic variant.
Conclusion: Persistent fetal vasculature, peripheral retinal vascular abnormalities, and optic nerve hypoplasia may be associated with TUBA1A variants. These patients should be carefully evaluated with dilated retinal examination and fluorescein angiography to detect retinal perfusion abnormalities requiring treatment.
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