由ADAMTSL4致病变异引起的晶状体和瞳孔异位及检查算法
Ectopia Lentis et Pupillae Caused by ADAMTSL4 Pathogenic Variants and an Algorithm for Work-up.
作者信息
Safi Mustafa, Nejad Salimeh Khazaei, O'Hara Mary, Shankar Suma P
出版信息
J Pediatr Ophthalmol Strabismus. 2019 Jul 5;56:e45-e48. doi: 10.3928/01913913-20190509-01.
PMID:31282960
Abstract
Ectopia lentis is displacement of the lens from its original position. It can be inherited or acquired with isolated or systemic findings. The authors describe a 4-year-old girl with isolated ectopia lentis et pupillae caused by pathogenic variants in the ADAMTSL4 gene and discuss the molecular genetic work-up of individuals with ectopia lentis. [J Pediatr Ophthalmol Strabismus. 2019;56:e45-e48.].
摘要
晶状体异位是指晶状体从其原始位置发生移位。它可以是遗传性的，也可以是伴有孤立性或全身性表现而获得性的。作者描述了一名4岁女孩，因ADAMTSL4基因的致病变异导致孤立性晶状体异位和瞳孔异位，并讨论了晶状体异位患者的分子遗传学检查。[《小儿眼科与斜视杂志》。2019年；56:e45 - e48。]
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