Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Dec 6, 2022; 10(34): 12734-12741
Published online Dec 6, 2022. doi: 10.12998/wjcc.v10.i34.12734
Surgical treatment of Pitt-Hopkins syndrome associated with strabismus and early-onset myopia: Two case reports
Ying Huang, Yue Di, Xiao-Xiao Zhang, Xin-Yue Li, Wang-Yi Fang, Tong Qiao
Ying Huang, Yue Di, Xiao-Xiao Zhang, Xin-Yue Li, Wang-Yi Fang, Tong Qiao, Department of Ophthalmology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200062, China
Author contributions: Huang Y and Di Y contributed equally to this work; Qiao T, Di Y and Huang Y conceived and designed the study; Huang Y, Zhang XX and Li XY collected clinical data; Huang Y and Fang WY analysed the data; Huang Y wrote the manuscript; Qiao T and Di Y gave the critical revision of the manuscript; all authors have read and approve the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Tong Qiao, Doctor, Chief Physician, Department of Ophthalmology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiaotong University, No. 355 Luding Road, Putuo District, Shanghai 200062, China. qiaojoel@126.com
Received: September 5, 2022
Peer-review started: September 5, 2022
First decision: September 26, 2022
Revised: October 10, 2022
Accepted: October 31, 2022
Article in press: October 31, 2022
Published online: December 6, 2022
Processing time: 88 Days and 5.4 Hours
Abstract
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.

Keywords: Pitt-Hopkins syndrome; Transcription factor 4; Strabismus; Myopia; Surgery; Case report

Core Tip: Ophthalmic conditions and surgical outcomes were observed in two children with Pitt-Hopkins syndrome (PTHS). We made key innovations in surgical timing and strategy, and the results were satisfactory. The combination of strabismus and posterior scleral reinforcement surgery is an innovative strategy for patients with both strabismus and early-onset myopia. Furthermore, early diagnosis and treatment of strabismus and myopia positively influence motor development and have, therefore, been included in rehabilitation programs for patients with PTHS. Overall, this study laid the groundwork for future surgical treatment of PTHS associated with strabismus and early-onset myopia.