Khan Arif O
Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE.
Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio, USA.
Taiwan J Ophthalmol. 2023 Aug 9;13(4):540-542. doi: 10.4103/tjo.TJO-D-23-00034. eCollection 2023 Oct-Dec.
Axenfeld-Rieger spectrum is a range of anterior segment dysgenesis (ASD) phenotypes often related to heterozygous pathogenic variants in the ocular transcription factor genes or . Microcornea with myopic chorioretinal atrophy, a less common ASD, is distinct, recognizable, and secondary to biallelic pathogenic variants in the metalloproteinase gene . This report describes the case of a boy with -related ASD that was mistaken for Axenfeld-Rieger syndrome and highlights distinguishing features.
阿克森费尔德-里格尔谱系是一系列眼前节发育异常（ASD）表型，通常与眼部转录因子基因 或 中的杂合致病变异有关。微角膜合并近视性脉络膜视网膜萎缩是一种较罕见的ASD，具有独特、可识别的特征，继发于金属蛋白酶基因 中的双等位致病变异。本报告描述了一名患有与 相关的ASD且被误诊为阿克森费尔德-里格尔综合征的男孩病例，并强调了其鉴别特征。
Zotero 插件