先天性特发性眼球震颤的遗传学研究进展

Current advance in molecular genetics of congenital idiopathic nystagmus

先天性特发性眼球震颤（CIN）是一种非自主性、有节律的眼球运动性疾病，是由于眼运动中枢传出机制缺陷而视觉及神经系统无明显受损的原发性疾患。CIN具有多种遗传方式，包括常染色体显性遗传、常染色体隐性遗传及X连锁遗传。近年来，通过基因定位的方法已发现多个与CIN相关的基因位点，同时也筛选了一些候选致病基因。就CIN的基因定位及相关致病基因的克隆进行综述。

Congenital idiopathic nystagmus （CIN） is characterized by monoocular or biocular involuntary, rhythmical,repeated oscillations. CIN is often referred to congenital ＇ motor＇ nystagmus since nystagmus occurs in the absence of a clinically demonstrable defect in the visual sensory system. CIN is genetically heterogeneous, and patterns of its inheritance have been well-known to include autosomal dominant,autosomal recessive and X-linked patterns. In recent years, many different genetic loci for CIN have been mapped, and researchers have found some candidate causing-disease genes. This review focuses on the recent advances of gene mapping and candidate gene analysis for molecular research of CIN.