首页 | 本学科首页   官方微博 | 高级检索  
     


A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder—Sengers Syndrome
Authors:Rajesh V Prabu  Parul Priyambada  H Ranjini  Rajlaxmi B Wasnik
Affiliation:Sankara Eye Hospital, Coimbatore, Tamil Nadu, India
Abstract:
Sengers syndrome is a rare autosomal recessive mitochondrial disorder characterized by congenital cataract, hypertrophic cardiomyopathy, and mitochondrial myopathy. We report two siblings with known mutation for Sengers Syndrome (AGK gene mutation) who presented to us with cataract and hypertrophic cardiomyopathy. They have a deceased elder sibling who was operated for cataract earlier.
Keywords:AGK gene   congenital cataract   hypertrophic cardiomyopathy
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号