Surgical treatment of Pitt-Hopkins syndrome associated with strabismus and early-onset myopia:Two case reports  

作　　者：Ying Huang Yue Di Xiao-Xiao Zhang Xin-Yue Li Wang-Yi Fang Tong Qiao 

机构地区：[1]Department of Ophthalmology,Shanghai Children's Hospital,School of Medicine,Shanghai Jiaotong University,Shanghai 200062,China

出　　处：《World Journal of Clinical Cases》2022年第34期12734-12741,共8页世界临床病例杂志

摘　　要：BACKGROUND Pitt-Hopkins syndrome(PTHS;MIM#610954)is a rare genetic neurological disorder.Myopia and strabismus have been reported in approximately 50%of PTHS patients.No studies have reported details about the required surgery for PTHS with strabismus and early-onset myopia.Here,we retrospectively reviewed the surgical management of two patients with PTHS combined with strabismus and/or early-onset myopia.CASE SUMMARY A 5-year-old girl presented with congenital esotropia and left eye myopia,and the second girl was a 5-year-old girl who presented with intermittent exotropia.Genetic testing performed on both patients showed a mutation in transcription factor 4,which is a diagnostic marker of PTHS.The first girl underwent bilateral medial rectus recession combined with posterior scleral reinforcement(PSR)in the left eye and the second patient underwent bilateral lateral rectus recession strabismus surgery.We made key innovations in surgical timing and strategy,and the results were satisfactory.The combination of strabismus and PSR surgery is an innovative strategy for patients with both strabismus and early-onset myopia.CONCLUSION Early treatment of strabismus and myopia positively influence motor development and should be included in rehabilitation programs for patients with PTHS.

关 键 词：Pitt-Hopkins syndrome Transcription factor 4 STRABISMUS MYOPIA Surgery Case report 

分 类 号：R779.6[医药卫生—眼科]