The first Chinese case with LCAEOD syndrome caused by mutation of TUBB4B gene  

作　　者：Yan-Ling Long Xiao Liu Gang Wang Bo Liu Xiao-Hong Meng Yong Liu 

机构地区：[1]Department of Ophthalmology,Southwest Hospital,Army Medical University(Third Military Medical University),Chongqing 400038,China [2]Jinfeng Laboratory,Chongqing 401239,China [3]Key Lab of Visual Damage and Regeneration&Restoration of Chongqing,Chongqing 400038,China

出　　处：《International Journal of Ophthalmology(English edition)》2025年第4期753-756,共4页国际眼科杂志(英文版)

基　　金：Supported by the National Natural Science Foundation of China(No.82271132).

摘　　要：Dear Editor,Leber congenital amaurosis with early-onset deafness syndrome(LCAEOD,OMIM 617879)is a rare autosomal dominant syndromic disease that was first described in 2017.The TUBB4B gene,encoding the betatubulin 4B isotype,has been identified as the primary genetic cause of the disease[1].LCAEOD is characterized by night blindness,nystagmus,strabismus,hypermetropia,serious vision loss,pigmentary retinopathy,minimal or no detectable electroretinogram responses and inner-ear cell dysfunction in the first decade of life[1-3].In short,this disease combines Leber congenital amaurosis(LCA,OMIM 204000)and sensorineural hearing loss(SHL).To date,only three studies have reported cases of LCAEOD with TUBB4B mutations[1-3].Here,we present the first Chinese case of LCAEOD syndrome caused by a mutation in TUBB4B gene.

关 键 词：LEBER LCA EOD 

分 类 号：R76[医药卫生—耳鼻咽喉科]