Congenital fibrosis of extraocular muscles (CFEOM) syndrome is a genetically determined congenital disorder characterized by non-progressive ophthalmoplegia, restrictive ocular fixation, and ptosis. Its estimated incidence is approximately 1 in 230 000 to 250 000. This paper reports a family with type 3 CFEOM diagnosed at the Second Xiangya Hospital of Central South University. The proband was a 10-year-old female who presented with right esotropia and right upper eyelid ptosis. Whole-exome sequencing revealed a heterozygous c.904G>A mutation in the TUBB3 gene. Genetic testing of family members identified that the proband's mother carried the same mutation and exhibited left eyelid ptosis. The child underwent strabismus correction followed by ptosis repair, both of which led to marked postoperative improvement. For children presenting with congenital extraocular movement restriction and ptosis, genetic testing plays a crucial role in confirming the diagnosis and guiding family analysis. Additionally, individualized surgical intervention can significantly improve both ocular function and cosmetic appearance.
先天性眼外肌纤维化(congenital fibrosis of extraocular muscles，CFEOM)综合征是一种具有遗传倾向的先天性眼外肌功能障碍性疾病，患者典型表现为先天性非进展性眼外肌麻痹、限制性眼球固定及上睑下垂，发病率为1/23万~1/25万。本文报告中南大学湘雅二医院收治的1个CFEOM 3型家系，先证者为10岁女性患儿，临床表现为右眼向内偏斜合并右眼上睑下垂。全外显子组测序发现患者在TUBB3基因上发生c.904G>A杂合突变。对家系中其他成员检测的结果提示患者母亲也携带相同突变，表现为左眼眼睑下垂。先后予患儿斜视矫正手术、上睑下垂矫正手术，术后症状得到明显改善。对于出现先天性眼外肌运动障碍及上睑下垂的患者，应高度重视遗传学检测在确诊及家系分析中的价值;同时，个体化的手术干预可显著改善患者的功能及外观。.
Keywords: TUBB3 gene; congenital fibrosis of extraocular muscles; exome sequencing; ptosis; strabismus.