共同性斜视的遗传学研究进展

Advances in genetic researches of concomitant strabismus

共同性斜视的病因多样且发病机制复杂,家族聚集发病现象并不少见,遗传因素在其发病中具有重要作用。其遗传模式复杂且遗传异质性高,内斜视和外斜视在不同的研究中表现出了不同的遗传模式与遗传度。7q31.2和4q28.3基因位点、ARIX等基因的变异、NPLOC4-TSPAN10-PDE6G基因簇等与共同性斜视发病相关,未来需要更多的大样本研究和家系研究及更多基因的验证。

The etiology and pathogenesis of concomitant strabismus is complex.Some patients have a clear family history,indicating that genetic factors play an important role in the pathogenesis of concomitant strabismus.Concomitant strabismus is generally considered as a kind of disease with complex genetic pattern and high genetic heterogeneity.Esotropia and exotropia show different genetic pattern and heritability in different studies.In recent years,genetic studies revealed the role of 7q31.2 and 4q28.3 locus,variation of gene like ARIX,and NPLOC4-TSPAN10-PDE6G gene cluster in the pathogenesis of concomitant strabismus.Future studies need larger sample size,more pedigrees study,and more specific gene mutations.(Int Rev Ophthalmol,2022,46:366-369)