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彼得斯异常:综述。

Peters anomaly: An overview.

作者信息

Khasnavis Arpita, Fernandes Merle

机构信息

Academy for Eye Care Education, L V Prasad Eye Institute, Hyderabad, Telangana, India.

Cornea and Anterior Segment Service, Shantilal Shanghvi Cornea Institute, L V Prasad Eye Institute, Hyderabad, Telangana, India.

出版信息

Taiwan J Ophthalmol. 2023 Oct 20;13(4):434-442. doi: 10.4103/tjo.TJO-D-23-00065. eCollection 2023 Oct-Dec.

DOI:10.4103/tjo.TJO-D-23-00065
PMID:38249502
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10798386/
Abstract

Peters anomaly (PA) is a rare, often bilateral, congenital corneal opacity, usually with a sporadic inheritance pattern, characterized by corneal opacities and irido-corneal or lenticular-corneal adhesions with a defect in the Descemet's membrane, occurring due to anterior segment dysgenesis during fetal development. Due to other ocular and systemic comorbidities, a team comprising pediatric cornea, glaucoma, and strabismus specialists in addition to a pediatrician and geneticist is necessary for the appropriate management of these children. Since the outcome of pediatric penetrating keratoplasty is variable and has a higher chance of failure when accompanied by additional procedures, such as lensectomy and vitrectomy, minimally invasive alternatives are increasingly being offered to these patients. Of note is the recently reported novel procedure: selective endothelialectomy for PA, which avoids the need for a corneal transplant and results in gradual clearing of the corneal opacity over time. In this overview, we aimed to describe the etiology, classification, pathophysiology, histopathology, clinical features, and management of PA.

摘要

彼得斯异常(PA)是一种罕见的、常为双侧性的先天性角膜混浊,通常呈散发性遗传模式,其特征为角膜混浊以及虹膜 - 角膜或晶状体 - 角膜粘连,伴有后弹力层缺损,这是由于胎儿发育期间眼前段发育异常所致。由于存在其他眼部和全身合并症,除儿科医生和遗传学家外,还需要一个由小儿角膜、青光眼和斜视专家组成的团队来对这些儿童进行恰当的管理。由于小儿穿透性角膜移植术的结果存在差异,并且在伴有诸如晶状体切除术和玻璃体切除术等额外手术时失败几率更高,因此越来越多地为这些患者提供微创替代方案。值得注意的是最近报道的一种新手术:PA的选择性内皮切除术,该手术无需进行角膜移植,随着时间推移角膜混浊会逐渐消退。在本综述中,我们旨在描述PA的病因、分类、病理生理学、组织病理学、临床特征及治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ae3/10798386/258e92a68647/TJO-13-434-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ae3/10798386/3e49fdab63de/TJO-13-434-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ae3/10798386/33011e2a9159/TJO-13-434-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ae3/10798386/258e92a68647/TJO-13-434-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ae3/10798386/3e49fdab63de/TJO-13-434-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ae3/10798386/33011e2a9159/TJO-13-434-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1ae3/10798386/258e92a68647/TJO-13-434-g003.jpg

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引用本文的文献

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Int J Mol Sci. 2025 Jul 4;26(13):6454. doi: 10.3390/ijms26136454.

本文引用的文献

1
Peters Anomaly: Novel Non-Invasive Alternatives to Penetrating Keratoplasty.彼得斯异常:穿透性角膜移植术的新型非侵入性替代方法。
Semin Ophthalmol. 2023 Apr;38(3):275-282. doi: 10.1080/08820538.2023.2176238. Epub 2023 Feb 14.
2
Selective Endothelialectomy in Peters Anomaly: A Novel Surgical Technique and Its Clinical Outcomes in Children.选择性血管内皮切除术治疗彼得斯异常:一种新的手术技术及其在儿童中的临床疗效。
Cornea. 2022 Dec 1;41(12):1477-1486. doi: 10.1097/ICO.0000000000003134. Epub 2022 Oct 17.
3
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
首例 Peters 异常 SOX2 基因突变证据:95 例患者分子筛查的启示。
Clin Genet. 2022 May;101(5-6):494-506. doi: 10.1111/cge.14123. Epub 2022 Feb 27.
4
Long-term Experience and Visual Acuity Outcomes in Patients With Peters Anomaly.Peters 异常患者的长期经验和视力结果。
J Pediatr Ophthalmol Strabismus. 2021 Sep-Oct;58(5):304-310. doi: 10.3928/01913913-20210412-01. Epub 2021 Sep 1.
5
Phenotypic Spectrum of Peters Anomaly: Implications for Management.皮特异常表型谱:对治疗的启示。
Cornea. 2022 Feb 1;41(2):192-200. doi: 10.1097/ICO.0000000000002768.
6
Penetrating Keratoplasty in Infants With Peters Anomaly: Visual and Graft Outcomes.婴儿期 Peters 异常的穿透性角膜移植术:视力和移植物结果。
Cornea. 2021 Jun 1;40(6):720-725. doi: 10.1097/ICO.0000000000002669.
7
Integrated Intraoperative Optical Coherence Tomography for Pediatric Lamellar Corneal Transplant Surgery.小儿板层角膜移植手术中的集成术中光学相干断层扫描技术
Dev Ophthalmol. 2021;61:1-7. doi: 10.1159/000511821. Epub 2021 Feb 23.
8
The Ocular Neural Crest: Specification, Migration, and Then What?眼神经嵴:特化、迁移,然后呢?
Front Cell Dev Biol. 2020 Dec 23;8:595896. doi: 10.3389/fcell.2020.595896. eCollection 2020.
9
Long-Term Visual Outcomes and Clinical Course of Patients With Peters Anomaly.Peters 异常患者的长期视觉预后和临床病程。
Cornea. 2021 Jul 1;40(7):822-830. doi: 10.1097/ICO.0000000000002577.
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Ultrasound Biomicroscopy Detects Peters' Anomaly and Rieger's Anomaly in Infants.超声生物显微镜检测婴儿彼得斯异常和里格尔异常。
J Ophthalmol. 2020 Mar 23;2020:8346981. doi: 10.1155/2020/8346981. eCollection 2020.