Knobloch综合征1例  

Knobloch syndrome: a case report

作　　者：刘庆言 崔雪皓 李振 邵彦[1] 邢东军 李文博 李筱荣[1] Liu Qingyan;Cui Xuehao;Li Zhen;Shao Yan;Xing Dongjun;Li Wenbo;Li Xiaorong(Tianjin Medical University Eye Hospital,Eye Institute and School of Optometry,Tianjin Branch of National Clinical Research Center for Ocular Disease,Tianjin Key Laboratory of Retinal Functions and Diseases,Tianjin 300384,China)

机构地区：[1]天津医科大学眼科医院,天津医科大学眼视光学院,天津医科大学眼科研究所,国家眼耳鼻喉疾病临床医学研究中心天津市分中心,天津市视网膜功能与疾病重点实验室,天津300384

出　　处：《中华眼科杂志》2022年第6期457-459,共3页Chinese Journal of Ophthalmology

摘　　要：5岁女童因出生后发现双眼视力差于2021年5月就诊于天津医科大学眼科医院,体检提示:双眼高度近视、双眼内斜视、水平震颤、双眼底高度近视改变,追问病史后发现,患儿出生后头颅枕部囊性肿物膨出,查头颅CT提示:枕部颅板缺损伴脑膜膨出,未作治疗,目前枕部肿物已自行消退。考虑患儿的眼部表现及颅骨改变,可能符合Knobloch综合征,后经全外显子基因检测V4发现,患儿为致病基因COL18A1的复合杂合变异,Knobloch综合征明确,该综合征是一种罕见的常染色体隐性遗传性疾病,典型特征是高度近视、视网膜脱离和枕部脑膨出,目前尚无明确的治疗方案,基因治疗可能是未来应对Knobloch综合征的有效治疗手段。A 5-year-old girl came to the Tianjin Medical University Eye Hospital in May 2021 because of her poor eyesight after birth.The physical examination showed that she had high myopia,esotropia,horizontal tremor,and high myopia retinopathy of both eyes.After inquiring about her medical history,we found that the baby's occipital cystic mass swelled after birth,and CT examination showed that the occipital skull plate defect with meningocele,but without treatment,at present,the occipital mass had subsided by itself.Considering the eye manifestations and skull changes of the child,it may be conformed to Knobloch syndrome,after the detection of V4 by full exon gene,it was found that the child had the compound heterozygous variation of pathogenic gene COL18A1,and Knobloch syndrome was definite,Knobloch syndrome is a rare autosomal recessive hereditary disease with typical features of high myopia,retinal detachment and occipital encephalocele.At present,there is no clear treatment plan,and gene therapy may be an effective treatment for Knobloch syndrome in the future.

关 键 词：脑膜膨出 视网膜变性 视网膜脱离 胶原ⅩⅧ型 突变 

分 类 号：R742[医药卫生—神经病学与精神病学] R771.3[医药卫生—临床医学]