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罕见前段发育异常病例的外科干预挑战:一例报告

Challenges in Surgical Intervention for a Rare Case of Anterior Segment Dysgenesis: A Case Report.

作者信息

Aldawood Amirah, Bakri Sultan, Alotaibi Batool

机构信息

Ophthalmology Department, Dhahran Eye Specialist Hospital, Dhahran, Saudi Arabia.

Ophthalmology Department, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.

出版信息

Int Med Case Rep J. 2023 Sep 21;16:579-584. doi: 10.2147/IMCRJ.S419685. eCollection 2023.

DOI:10.2147/IMCRJ.S419685
PMID:37753202
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10519425/
Abstract

Anterior Segment Dysgenesis (ASD) represents a spectrum of rare, congenital disorders that pose significant challenges to ophthalmological management due to their complex and heterogeneous nature. The management of ASD becomes particularly complex when associated with other serious ocular conditions. This report discusses the case of a 4-year-old girl diagnosed with ASD exhibiting a combination of sclerocornea, aphakia, aniridia, and secondary glaucoma. Owing to the complexity of such condition, a multi-disciplinary approach is required. Despite successful initial surgical interventions on the left eye, eye was lost due to subsequent endophthalmitis and retinal detachment, resulting in a decision to adopt a conservative, non-surgical approach for the right eye. Although a series of therapeutic interventions have been performed, the final visual outcome was poor, demonstrating the complexity and seriousness of such cases. This case serves as a reminder of the need for regular follow-up, prompt recognition, and management of potential complications. Further research is necessary to optimize the outcomes in patients with similar presentations.

摘要

前段发育异常(ASD)是一系列罕见的先天性疾病,由于其复杂和异质性,给眼科治疗带来了重大挑战。当ASD与其他严重眼部疾病相关联时,其治疗变得尤为复杂。本报告讨论了一名4岁女孩的病例,该女孩被诊断为患有ASD,表现为角膜硬化、无晶状体、无虹膜和继发性青光眼。由于这种疾病的复杂性,需要采取多学科方法。尽管对左眼进行了成功的初始手术干预,但由于随后发生眼内炎和视网膜脱离,眼睛最终失明,因此决定对右眼采取保守的非手术方法。尽管已经进行了一系列治疗干预,但最终视力结果仍很差,这表明了此类病例的复杂性和严重性。该病例提醒人们需要定期随访、及时识别和处理潜在并发症。有必要进行进一步研究以优化类似病例患者的治疗结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a644/10519425/3bbf7d503c5e/IMCRJ-16-579-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a644/10519425/c6c736c59094/IMCRJ-16-579-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a644/10519425/3bbf7d503c5e/IMCRJ-16-579-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a644/10519425/c6c736c59094/IMCRJ-16-579-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a644/10519425/3bbf7d503c5e/IMCRJ-16-579-g0002.jpg

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本文引用的文献

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Indian J Ophthalmol. 2023 May;71(5):2263-2266. doi: 10.4103/IJO.IJO_3068_22.
2
Anterior segment dysgenesis: Insights into the genetics and pathogenesis.前节发育不良:遗传学和发病机制的新见解。
Indian J Ophthalmol. 2022 Jul;70(7):2293-2303. doi: 10.4103/ijo.IJO_3223_21.
3
Clinical outcomes and visual prognostic factors in congenital aniridia.
先天性无虹膜的临床结果和视觉预后因素。
BMC Ophthalmol. 2022 May 25;22(1):235. doi: 10.1186/s12886-022-02460-5.
4
Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.由 FOXC1 新型截断变异引起的可变前节发育不良和心脏异常。
Genes (Basel). 2022 Feb 24;13(3):411. doi: 10.3390/genes13030411.
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The outcomes of trans-scleral cyclophotocoagulation in pediatric glaucoma secondary to Sturge-Weber syndrome.巩膜外睫状体光凝术治疗小儿斯-韦综合征继发青光眼的疗效
J AAPOS. 2022 Apr;26(2):78.e1-78.e5. doi: 10.1016/j.jaapos.2021.11.013. Epub 2022 Mar 17.
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Surgical Management of Paediatric Aphakia in the Absence of Sufficient Capsular Support.缺乏足够晶状体囊膜支持时小儿无晶状体眼的手术治疗
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