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目的探讨先天性眼外肌纤维化综合征(CFEOM)患病家系及散发病例的临床表现和诊断方法。方法回顾性总结和分析6个CFEOM患病家系和7例散发病例的临床特征,包括遗传学特征、性别、初诊年龄、临床表现、上睑下垂特征、异常神经支配情况。结果6个患病家系均具有常染色体显性遗传特征,均为广泛纤维化综合征,下直肌受累最明显,除1例患者单眼受累外,其他患者均为双眼受累;患病家系中受检患者29例,2例无上睑下垂,7例无异常神经支配症状。在7例散发患者中,男女比例为2∶5,3例为单眼受累;固定性内斜视3例,合并下直肌纤维化的广泛纤维化综合征3例,合并上直肌纤维化的广泛纤维化综合征1例;1例为单眼上睑下垂,4例无眼睑下垂症状;2例合并异常神经支配症状。结论CFEOM患者在临床少见,且临床表现复杂多样,充分重视和掌握临床特征并结合遗传基因分析是临床进行正确诊断的基础。目前的分类方法尚不完善,需对其发病机制进行更为深入的研究。
Objective To investigate the clinical manifestations and diagnosis of congenital extraocular muscle fibrosis syndrome (CFEOM) in pedigrees and sporadic cases. Methods The clinical features of 6 CFEOM affected pedigrees and 7 sporadic cases were retrospectively reviewed and analyzed, including the features of genetics, gender, age of onset, clinical manifestations, ptosis and abnormal innervation. Results All the six affected pedigrees had autosomal dominant genetic features, which were all patients with extensive fibrosis syndrome. The lower rectus muscle involved most obviously. Except for one patient with monocular involvement, all the other patients had binocular involvement. In the diseased pedigree Twenty-nine patients were examined, 2 had no ptosis and 7 had no abnormal innervation. In 7 patients with disseminated patients, male to female ratio of 2: 5, 3 cases of monocular involvement; fixed esotropia in 3 cases, combined with lower rectus fibrosis extensive fibrosis syndrome in 3 cases, combined with upper rectus fibrosis extensive fibrosis 1 case of levator an eye, 1 case of monocular ptosis, 4 cases without eyelid ptosis symptoms; 2 cases with abnormal neurological symptoms. Conclusion CFEOM patients are rare in clinic and their clinical manifestations are complex and diverse. Paying full attention to and mastering clinical features and combining with genetic analysis is the basis of correct diagnosis in clinic. The current classification method is not perfect, need to be more in-depth study of its pathogenesis.