晶状体及瞳孔异位：遗传学方面及鉴别诊断

Ectopia lentis et pupillae: the genetic aspects and differential diagnosis.

作者信息

Colley A, Lloyd I C, Ridgway A, Donnai D

机构信息

Department of Medical Genetics, St Mary's Hospital, Manchester.

出版信息

J Med Genet. 1991 Nov;28(11):791-4. doi: 10.1136/jmg.28.11.791.

DOI:10.1136/jmg.28.11.791

PMID:1770538

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1017117/

Abstract

Two sib pairs and a fifth child are described with autosomal recessive ectopia lentis et pupillae. Patients with this disorder need regular ophthalmic review, but do not have the skeletal and metabolic complications associated with other syndromes with ectopia lentis.

摘要

本文描述了两对同胞兄妹和一个五岁儿童患有常染色体隐性遗传性晶状体异位和瞳孔异位。患有这种疾病的患者需要定期进行眼科检查，但不会出现与其他晶状体异位综合征相关的骨骼和代谢并发症。