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两例使用治疗性巩膜镜治疗KID综合征的病例。

Two cases of therapeutic scleral lenses for KID syndrome.

作者信息

Gagliardi Melynda, Asghari Bita

机构信息

Eyes on Weston, 10-8633 Weston Road, Vaughan, ON, L4L9R6, Canada.

BostonSight, 464 Hillside Ave, Needham, MA, 02494, USA.

出版信息

Am J Ophthalmol Case Rep. 2025 Jan 19;37:102261. doi: 10.1016/j.ajoc.2025.102261. eCollection 2025 Mar.

DOI:10.1016/j.ajoc.2025.102261
PMID:39927073
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11804770/
Abstract

PURPOSE

This case series describes the therapeutic application of customized scleral lenses via prosthetic replacement of the ocular surface ecosystem (PROSE) in patients with Keratitis-Ichthyosis-Deafness (KID) syndrome. It proposes PROSE or scleral lens wear as a therapeutic option for KID syndrome.

OBSERVATIONS

Two patients with KID syndrome were successfully fitted with PROSE devices, also referred to as prosthetic devices, and continued with wear. The duration of lens wear ranged from one to seven years. One patient was pediatric with severe disease, and the other an adult with milder disease. The pediatric patient had challenges with application and removal and ultimately discontinued device wear; however, demonstrated improvement in corneal surface health through duration of wear for the right eye. The second patient continued with device wear for seven years, with resolution of recurrent corneal erosions, improved comfort and stabilization of corneal surface health. Both patients had benefit with PROSE device wear.

CONCLUSION AND IMPORTANCE

Management of ocular surface disease in KID syndrome can be challenging with limited therapeutic options including poor surgical outcomes. This case series supports the therapeutic application of scleral lenses in patients with KID syndrome.

摘要

目的

本病例系列描述了通过眼表生态系统修复术(PROSE)定制巩膜镜在角膜炎-鱼鳞病-耳聋(KID)综合征患者中的治疗应用。它提出将PROSE或巩膜镜佩戴作为KID综合征的一种治疗选择。

观察结果

两名KID综合征患者成功佩戴了PROSE装置(也称为修复装置)并持续佩戴。镜片佩戴时间为1至7年。一名患者为患有严重疾病的儿童,另一名为患有较轻疾病的成年人。儿童患者在佩戴和取下装置方面存在困难,最终停止了装置佩戴;然而,通过右眼佩戴期间的观察,其角膜表面健康状况有所改善。第二名患者持续佩戴装置7年,复发性角膜糜烂得到解决,舒适度提高,角膜表面健康状况稳定。两名患者佩戴PROSE装置均有获益。

结论与意义

KID综合征眼表疾病的管理具有挑战性,治疗选择有限,包括手术效果不佳。本病例系列支持巩膜镜在KID综合征患者中的治疗应用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/897f/11804770/46756aa43534/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/897f/11804770/32c972338aa4/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/897f/11804770/46756aa43534/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/897f/11804770/32c972338aa4/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/897f/11804770/46756aa43534/gr2.jpg

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本文引用的文献

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Am J Ophthalmol Case Rep. 2023 Sep 1;32:101919. doi: 10.1016/j.ajoc.2023.101919. eCollection 2023 Dec.
2
Update on indications, complications, and outcomes of scleral contact lenses.巩膜接触镜的适应症、并发症及治疗效果的最新进展
Med Hypothesis Discov Innov Ophthalmol. 2022 Feb 24;10(4):165-178. doi: 10.51329/mehdiophthal1435. eCollection 2021 Winter.
3
Contact lenses in dry eye disease and associated ocular surface disorders.
干眼症和相关眼表疾病中的隐形眼镜。
Indian J Ophthalmol. 2023 Apr;71(4):1142-1153. doi: 10.4103/IJO.IJO_2778_22.
4
Keratitis-ichthyosis-deafness Syndrome with Heterozygous p.D50N in the Gene in Two Serbian Adult Patients.两名塞尔维亚成年患者中存在基因杂合性p.D50N的角膜炎-鱼鳞病-耳聋综合征
Balkan J Med Genet. 2023 Mar 1;25(1):79-84. doi: 10.2478/bjmg-2022-0014. eCollection 2022 Jun.
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Regression of corneal opacity and neovascularization in Stevens-Johnson syndrome and Toxic Epidermal Necrolysis with the use of prosthetic replacement of the ocular surface ecosystem (PROSE) treatment.使用眼表生态系统假体置换(PROSE)治疗史蒂文斯-约翰逊综合征和中毒性表皮坏死松解症时角膜混浊和新生血管的消退。
Am J Ophthalmol Case Rep. 2022 Apr 14;26:101520. doi: 10.1016/j.ajoc.2022.101520. eCollection 2022 Jun.
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Am J Ophthalmol. 2021 Apr;224:254-266. doi: 10.1016/j.ajo.2020.10.014. Epub 2020 Oct 28.
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Mulitmodal Corneal Imaging of Genetically Confirmed Keratitis-Ichthyosis-Deafness Syndrome.基因确诊的角膜炎-鱼鳞病-耳聋综合征的多模态角膜成像
Cornea. 2020 Nov;39(11):1446-1449. doi: 10.1097/ICO.0000000000002415.
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