{"title":"与 ADAMTS18 相关的前节发育不良被误认为是 Axenfeld-Rieger 综合征。","authors":"Arif O Khan","doi":"10.4103/tjo.TJO-D-23-00034","DOIUrl":null,"url":null,"abstract":"<p><p>Axenfeld-Rieger spectrum is a range of anterior segment dysgenesis (ASD) phenotypes often related to heterozygous pathogenic variants in the ocular transcription factor genes <i>FOXC1</i> or <i>PITX2</i>. Microcornea with myopic chorioretinal atrophy, a less common ASD, is distinct, recognizable, and secondary to biallelic pathogenic variants in the metalloproteinase gene <i>ADAMTS18</i>. This report describes the case of a boy with <i>ADAMTS18</i>-related ASD that was mistaken for Axenfeld-Rieger syndrome and highlights distinguishing features.</p>","PeriodicalId":44978,"journal":{"name":"Taiwan Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":1.0000,"publicationDate":"2023-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10798388/pdf/","citationCount":"0","resultStr":"{\"title\":\"<i>ADAMTS18</i>-related anterior segment dysgenesis mistaken as Axenfeld-Rieger syndrome.\",\"authors\":\"Arif O Khan\",\"doi\":\"10.4103/tjo.TJO-D-23-00034\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Axenfeld-Rieger spectrum is a range of anterior segment dysgenesis (ASD) phenotypes often related to heterozygous pathogenic variants in the ocular transcription factor genes <i>FOXC1</i> or <i>PITX2</i>. Microcornea with myopic chorioretinal atrophy, a less common ASD, is distinct, recognizable, and secondary to biallelic pathogenic variants in the metalloproteinase gene <i>ADAMTS18</i>. This report describes the case of a boy with <i>ADAMTS18</i>-related ASD that was mistaken for Axenfeld-Rieger syndrome and highlights distinguishing features.</p>\",\"PeriodicalId\":44978,\"journal\":{\"name\":\"Taiwan Journal of Ophthalmology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2023-08-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10798388/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Taiwan Journal of Ophthalmology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/tjo.TJO-D-23-00034\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/10/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Taiwan Journal of Ophthalmology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/tjo.TJO-D-23-00034","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/10/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
ADAMTS18-related anterior segment dysgenesis mistaken as Axenfeld-Rieger syndrome.
Axenfeld-Rieger spectrum is a range of anterior segment dysgenesis (ASD) phenotypes often related to heterozygous pathogenic variants in the ocular transcription factor genes FOXC1 or PITX2. Microcornea with myopic chorioretinal atrophy, a less common ASD, is distinct, recognizable, and secondary to biallelic pathogenic variants in the metalloproteinase gene ADAMTS18. This report describes the case of a boy with ADAMTS18-related ASD that was mistaken for Axenfeld-Rieger syndrome and highlights distinguishing features.
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