Paul T O, Hardage L K
Smith-Kettlewell Eye Research Institute, San Francisco, CA 94115.
Ophthalmic Genet. 1994 Mar;15(1):1-18. doi: 10.3109/13816819409056905.
The etiology of strabismus has long been observed to have a genetic component. Recent advances in genetic methodology may provide insight into the genetic basis for several types of inherited strabismus, including those associated with genetic multisystem disorders such as Moebius syndrome, Prader-Willi syndrome, craniofacial dysostoses, and mitochondrial myopathies. Inheritance of primary forms of strabismus, such as congenital ocular fibrosis, Brown syndrome and Duane syndrome, has been reported, but less is known of the defective genetic sites. The genetic basis for isolated strabismus that clusters in families, such as infantile esotropia syndrome, is also not yet known, but new techniques of molecular biology may now permit linkage detection in these families. By identifying affected families, clinicians will take part in unraveling the genetic basis of hereditary strabismus syndromes.
长期以来，人们一直观察到斜视的病因具有遗传成分。遗传方法学的最新进展可能有助于深入了解几种遗传性斜视的遗传基础，包括那些与遗传多系统疾病相关的斜视，如默比厄斯综合征、普拉德-威利综合征、颅面骨发育不全以及线粒体肌病。原发性斜视，如先天性眼外肌纤维化、布朗综合征和杜安综合征的遗传情况已有报道，但对有缺陷的基因位点了解较少。家族性聚集性孤立性斜视，如婴儿型内斜视综合征的遗传基础也尚不清楚，但分子生物学的新技术现在可能使在这些家族中进行连锁检测成为可能。通过识别受影响的家族，临床医生将参与揭示遗传性斜视综合征的遗传基础。
