无扁平角膜的遗传性单独晶状体异位1例报道

Inherited isolated ectopia lentis without flat cornea:a case report

目的:描述由FBN1基因的p.Arg974CYs突变引起的遗传性双侧晶状体异位。方法:记录患病男童的临床数据和家族史。对被调查患者进行眼科和家庭基因检测。详细的眼科检查包括视力、裂隙灯检查晶状体位置、验光、角膜中央厚度、角膜曲率、眼底检查、眼轴长度、眼部B超、眼压检查。基因检查使用安捷伦外显子芯片捕获+高通量测序。结果:在母子患者中发现了FBN1的一个杂合突变C2920C>T(p.Arg974Cys)。但在未受影响的父亲中未发现。在患者疾病的临床表现研究中,本研究得到了一系列新的临床表现,包括正常的角膜曲率伴随着弱视。结论:单独的晶状体异位(ectopia lentis,EL)与马方综合征有很强的关联性。潜在的主动脉夹层或FBN1突变导致的主动脉瘤都可能使其未来转变为马方综合征。最好在患者成年后进行人工晶体植入术。

Objective:To describe inherited bilateral ectopia lentis caused by p.Arg974 CYs mutation in the FBN1 gene. Methods:The boy’s clinical data and family history were recorded. Ophthalmic examination and family gene detection were performed for the boy.Detailed ophthalmic examination included vision,lens position by slit-lamp examination,optometry,central corneal thickness,corneal curvature,fundus examination,axial length,ophthalmic ultrasound,and intraocular pressure measurement. Agilent exon array microprocessor capture and high-throughput sequencing were used for gene detection. Results:A heterozygous mutation,C2920 C>T(p.Arg974 Cys),of the FBN1 gene was found in the affected mother and the son,while it was not found in the father who was unaffected.The study on the clinical manifestation of this disease revealed several new clinical manifestations,including normal corneal curvature accompanied by amblyopia. Conclusion:Isolated ectopia lentis is closely associated with Marfan syndrome. Potential aortic dissection or aortic aneurysm caused by FBN1 mutation may turn isolated ectopia lentis into Marfan syndrome. Intraocular lens implantation is recommended for such patients after they become adults.