GENETIC STUDIES OF PATIENTS AND THEIR FAMILIES WITH DISORDERS OF EYE AND EYELID

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。该方案旨在通过阐明斜视和上睑下垂的遗传原因来继续我们的研究，以了解先天性眼球和眼睑运动障碍的病理生理学。我们研究的目的是：1)确定导致人类先天性斜视和上睑下垂的遗传基因座和基因突变；2)将这些基因座和特定的突变与临床表型相关联；3)将这些突变与受试者脑干和/或眼外肌的特定解剖变化相关联；4)确定每个突变基因在正常和异常发育中的作用。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. This protocol is designed to continue our research to understand the pathophysiology of congenital disorders of eye and lid movement by elucidating the genetic causes of strabismus and ptosis. The objectives of our research are to 1) identify genetic loci and gene mutations responsible for forms of human congenital strabismus and ptosis, 2) correlate thes genetic loci and specific mutations with clinical phenotypes, 3) correlate these mutations with specific anatomic changes in the brainstem and/or extraocular muscle of affected participants, 4) determine the role of each mutated gene in normal and abnormal development.