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

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。本方案旨在通过阐明斜视和上睑下垂的遗传原因，继续我们的研究，以了解先天性眼睛和眼睑运动障碍的病理生理学。我们的研究目标是：1)确定与人类先天性斜视和上睑下垂有关的基因位点和基因突变；2)将这些基因位点和特定突变与临床表型相关联；3)将这些突变与受影响参与者的脑干和/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.