中文摘要：

【摘要】目的对一个X染色体连锁遗传先天性眼球震颤家系的患者进行手术治疗，比较术前术后的视力、立体视以及代偿头位改善情况，综合评价手术效果。同时对候选基因FRMD7直接测序，探究该家系的分子发病机制。方法家系基因研究。2013年12月至2015年10月间，收集一个先天性眼球震颤家系，对家系所有患者行中间带移位术，术后观察其视力、立体视及代偿头位改善情况。从家系中每一代各选1例患者（包括先证者）及正常人，进行候选基因FRMD7基因的外显子测序。结果8例患者中有7例术后代偿头位完全改善，1例术后仍残留10°以上的垂直头位。FRMD7基因第12外显子的出现杂合突变（c．G1403A），导致了编码的第468个氨基酸由精氨酸变成了组氨酸（p．R468H）。结论该X染色体连锁遗传先天性眼球震颤家系的致病基因为FRMD7基因。通过中间带移位术可以明显改善患者的垂直代偿头位，并能提高正前方双眼视力、立体视。

英文摘要：

Objective To evaluate the clinical surgery effect on a X chromosome linkage inheri- tance Chinese family with congenital nystagmus by comparing visual acuity, stereopsis, compensatory head posture between pre-operation and post-operation, and to determine the molecular pathogenesis of this family by gene sequencing candidate gene FRMD7. Methods The research was performed from December 2013 to October 2015. All patients in the congenital nystagmus family were per- formed shift of neutral zone surgery and after surgery vision, stereopsis, compensatory head posture change were observed. Exon sequence was detected in one patient （including propositus） and one nor- mal person from each generation in this family. Results Compensatory head postures of 7 patients in all 8 patients were completely corrected, 1 patient had residual above 10° vertical compensatory head posture. The heterozygous mutation （c.G1403A） of 12th exon in FRMD7 changed 458th amino acid Arginine into Histidine （p.R468H）. Conclusions The pathogenic gene is FRMD7. Shift of neu- trual zone surgery can improve vertical compensatory head posture and increase visual acuity and ste- reopsis right in front of these patients.