眼前节发育不全 1
疾病条目id
DI-00123
基因病名称(英)
Anterior segment dysgenesis 1
基因病名称
眼前节发育不全 1
关键字(英)
关键字
别名(英)
Anterior segment mesenchymal dysgenesis,Anterior segment ocular dysgenesis,ASMD,ASOD,Familial ocular anterior segment mesenchymal dysgenesis
别名
眼前节间质发育不全,眼前节眼部发育不全,ASMD,ASOD,家族性眼前节间质发育不全
统计
reviewed:1; annotated:0
交叉引用
107250,C1862839,D005124
助记符
ASGD1
描述(英)
A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis.
描述
眼前节发育不全的一种形式,一组影响眼睛前部结构的缺陷,包括角膜、虹膜、晶状体、小梁网和施累姆管。眼前节发育异常是由神经嵴衍生的间充质细胞异常迁移或分化引起的,这些细胞在眼睛发育过程中产生前房成分。不同的眼前节异常可单独存在或同时存在,包括虹膜发育不全、角膜直径增大或缩小、角膜血管化和混浊、后胚胎毒素、角膜异位、多眼症、虹膜角膜角异常、晶状体异位和虹膜与角膜后表面之间的前粘连. 属于眼前节发育异常表型谱的临床病症包括无虹膜、Axenfeld 异常、Reiger 异常/综合征、
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