Engle Elizabeth C
Program in Genomics, Children's Hospital Boston, MA 02115, USA.
Pediatr Res. 2006 Mar;59(3):343-8. doi: 10.1203/01.pdr.0000200797.91630.08.
Members of my research laboratory combine clinical, genetic, and molecular biologic approaches to the study of congenital strabismus. Strabismus, which is misalignment of the eyes, affects 2-4% of the population and causes loss of binocular vision and amblyopia (vision loss in a structurally normal eye). The cause of strabismus when it occurs in the absence of structural brain abnormalities is generally unknown. In the last decade, we have focused our research studies on understanding the genetic etiology of a series of complex strabismus syndromes in which eye movement in at least one direction is limited or paralyzed. We are discovering that these disorders result from mutations in genes necessary for the normal development and connectivity of brainstem ocular motoneurons, including PHOX2A, SALL4, KIF21A, ROBO3, and HOXA1, and we now refer to these syndromes as the "congenital cranial dysinnervation disorders," or CCDD.
我研究实验室的成员运用临床、遗传学和分子生物学方法来研究先天性斜视。斜视是指眼睛的不对位，影响着2%至4%的人口，并导致双眼视觉丧失和弱视（结构正常的眼睛出现视力丧失）。在没有结构性脑部异常的情况下发生斜视的原因通常不明。在过去十年中，我们将研究重点放在理解一系列复杂斜视综合征的遗传病因上，在这些综合征中，至少在一个方向上的眼球运动受到限制或麻痹。我们发现这些疾病是由脑干眼运动神经元正常发育和连接所必需的基因突变引起的，这些基因包括PHOX2A、SALL4、KIF21A、ROBO3和HOXA1，我们现在将这些综合征称为“先天性颅神经支配障碍”，即CCDD。
