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Abstract：
Strabismus, or misalignment of the eyes, is the most common ocular disorder in the pediatric population, affecting approximately 2%-4% of children. Strabismus leads to the disruption of binocular vision, amblyopia, social and occupational discrimination, and decreased quality of life. Although it has been recognized since ancient times that strabismus runs in families, its inheritance patterns are complex, and its precise genetic mechanisms have not yet been defined. Family, population, and twin studies all support a role of genetics in the development of strabismus. There are multiple forms of strabismus, and it is not known if they have shared genetic mechanisms or are distinct genetic disorders, which complicates studies of strabismus. Studies assuming that strabismus is a Mendelian disorder have found areas of linkage and candidate genes in particular families, but no definitive causal genes. Genome-wide association studies searching for common variation that contributes to strabismus risk have identified two risk loci and three copy number variants in white populations. Causative genes have been identified in congenital cranial dysinnervation disorders, syndromes in which eye movement is limited or paralyzed. The causative genes lead to either improper differentiation of cranial motor neurons or abnormal axon guidance. This article reviews the evidence for a genetic contribution to strabismus and the recent advances that have been made in the genetics of comitant strabismus, the most common form of strabismus.
摘要：
斜视,或者眼睛错位，是儿科人群中最常见的眼部疾病，影响大约2%-4%的儿童。斜视导致双眼视觉的破坏,弱视,社会和职业歧视，生活质量下降。尽管自古以来就已经认识到斜视在家庭中运行，它的继承模式很复杂，其精确的遗传机制尚未确定。家庭,人口,和双胞胎研究都支持遗传学在斜视发展中的作用。有多种形式的斜视，尚不清楚它们是否具有共同的遗传机制或独特的遗传疾病，这使得斜视的研究变得复杂。假设斜视是一种孟德尔疾病的研究发现了特定家族中的连锁区域和候选基因，但没有明确的因果基因。寻找导致斜视风险的常见变异的全基因组关联研究已经确定了白人群体中的两个风险基因座和三个拷贝数变异。已经在先天性颅骨神经支配障碍中确定了致病基因,眼球运动受限或瘫痪的综合征。致病基因导致颅运动神经元分化不当或轴突引导异常。本文回顾了斜视的遗传贡献的证据以及伴随斜视遗传学的最新进展。最常见的斜视形式。
