Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 6, 2022; 10(13): 4171-4176
Published online May 6, 2022. doi: 10.12998/wjcc.v10.i13.4171
Late contralateral recurrence of retinal detachment in incontinentia pigmenti: A case report
You-Ran Cai, Yong Liang, Xin Zhong
You-Ran Cai, Yong Liang, Xin Zhong, Department of Ophthalmology, The First Affiliated Hospital of Guangxi Medical University, Nanning 530021, Guangxi Province, China
Author contributions: Cai YR collected the case data and wrote the report; Liang Y treated the patient; Zhong X reviewed the literature and performed the preliminary revision of the article; all authors read and approved the final version to be published.
Informed consent statement: The participant in this study provided written informed consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that there are no conflicts of interest.
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: Xin Zhong, MD, Chief Physician, Department of Ophthalmology, The First Affiliated Hospital of Guangxi Medical University, No. 6 Shuangyong Road, Nanning 530021, Guangxi Province, China. gxmuzx@163.com
Received: August 24, 2021
Peer-review started: August 24, 2021
First decision: December 27, 2021
Revised: January 7, 2022
Accepted: March 16, 2022
Article in press: March 16, 2022
Published online: May 6, 2022
Processing time: 248 Days and 15.5 Hours
Abstract
BACKGROUND

Incontinentia pigmenti (IP) is a rare X-linked genetic disease. It mainly manifests as skin lesions and causes problems in the eyes, teeth, bones, and central nervous system. Of the various ocular manifestations, the most severe with difficult recovery is retinal detachment (RD). Here, we report an unusual case of bilateral asymmetrical RD.

CASE SUMMARY

We present the case of an 11-year-old Chinese girl with IP who complained of sudden blurring of vision in the left eye. At that time, she had been blind in her right eye for 4 years. RD with traction was observed in both eyes. A massive retinal proliferative membrane, exudation, and hemorrhage were seen in the left eye. We performed vitrectomy in her left eye. Her visual acuity recovered to 20/50, and her retina had flattened within 2 d after surgery. During the 3-mo follow-up, we performed retinal laser treatment of the non-perfused retinal area in her left eye. Eventually, her visual acuity returned to 20/32, and no new retinal abnormalities developed.

CONCLUSION

In patients with IP with fundal abnormalities in one eye, it is important to focus on the rate of fundal change in the other eye. RD in its early stages can be effectively treated with timely vitrectomy and laser photocoagulation.

Keywords: Incontinentia pigmenti; Bilateral; Retinal detachment; Shift code mutation; Vitrectomy; Case report

Core Tip: Incontinentia pigmenti (IP) is a rare X-linked genetic disorder. It occurs due to a mutation in the IKBKG gene. We report an unusual IP case who presented with asymmetrical retinal detachment in both eyes. Genome sequencing revealed a rare mutation previously mentioned only once. Following prompt vitrectomy of her left eye, her symptoms significantly improved. This case reminds us to pay more attention to potential abnormal changes in the other eye of patients with monocular retinal abnormalities.