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视盘玻璃疣的起源、演变及发病机制研究进展:一篇综述

Advances in origin, evolution, and pathogenesis of optic disc drusen: A narrative review.

作者信息

Liu Xiyuan, Yan Yan

机构信息

Ottawa-Shanghai Joint School of Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.

出版信息

Indian J Ophthalmol. 2025 May 1;73(5):637-647. doi: 10.4103/IJO.IJO_937_24. Epub 2025 Apr 24.

DOI:10.4103/IJO.IJO_937_24
PMID:40272291
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12121874/
Abstract

Optic disc drusen (ODD) is acellular calcified deposits found mainly in front of the lamina cribrosa within the optic nerve. It can cause chronic or acute vision loss. There has been progress in clinical diagnosis using ophthalmic multimodal imaging in recent years. We conducted a database search on PubMed and Google Scholar (April 2023) with no restrictions on publication year or language. We used the terms: ("optic disc drusen") OR ("optic nerve head drusen") OR ("drusen of optic nerve head"). Other terms included gene, mutation, scleral canal, axonal transport, calcinosis, mitochondria, blood vessel, vasculature, visual field, vision, and optical coherence tomography to identify publications. Etiologically, ODD may stem from congenital genetic defects, aberrant axoplasmic transport, anatomical abnormalities, and mechanical factors during ocular duction. Clinically, ODD is linked to progressive visual field defects and vascular complications. Detection of deeply buried ODD can be challenging, but advances in optical coherence tomography make early identification possible. Structural changes, including retinal nerve fiber layer thinning, can be monitored. Increasing reports indicate vascular complications, including anterior ischemic optic neuropathy, in ODD patients. Currently, ODD-related visual field defects are not effectively treated, and observation remains the primary management approach. Future pathological discoveries or the establishment of animal models may provide new evidence for revealing the pathogenesis of ODD.

摘要

视盘小疣(ODD)是主要位于视神经筛板前的无细胞钙化沉积物。它可导致慢性或急性视力丧失。近年来,眼科多模态成像在临床诊断方面取得了进展。我们在PubMed和谷歌学术(2023年4月)上进行了数据库搜索,对发表年份和语言没有限制。我们使用了以下术语:(“视盘小疣”)或(“视神经乳头小疣”)或(“视神经乳头的小疣”)。其他术语包括基因、突变、巩膜管、轴突运输、钙质沉着、线粒体、血管、脉管系统、视野、视力和光学相干断层扫描,以识别相关出版物。从病因学上讲,ODD可能源于先天性遗传缺陷、异常的轴浆运输、解剖学异常以及眼球转动时的机械因素。临床上,ODD与进行性视野缺损和血管并发症有关。检测深埋的ODD可能具有挑战性,但光学相干断层扫描的进展使早期识别成为可能。包括视网膜神经纤维层变薄在内的结构变化可以得到监测。越来越多的报告表明,ODD患者存在血管并发症,包括前部缺血性视神经病变。目前,与ODD相关的视野缺损尚无有效治疗方法,观察仍然是主要的管理方法。未来的病理学发现或动物模型的建立可能为揭示ODD的发病机制提供新的证据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bb7/12121874/ef8828adad5d/IJO-73-637-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bb7/12121874/afc51aa7a903/IJO-73-637-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bb7/12121874/e9d0cbd99f2c/IJO-73-637-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bb7/12121874/40b922106458/IJO-73-637-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bb7/12121874/ef8828adad5d/IJO-73-637-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bb7/12121874/afc51aa7a903/IJO-73-637-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bb7/12121874/e9d0cbd99f2c/IJO-73-637-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bb7/12121874/40b922106458/IJO-73-637-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bb7/12121874/ef8828adad5d/IJO-73-637-g004.jpg

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本文引用的文献

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Prevalence of optic disc drusen: A systematic review, meta-analysis and forecasting study.视盘玻璃疣的患病率:一项系统评价、荟萃分析和预测研究。
Acta Ophthalmol. 2024 Feb;102(1):15-24. doi: 10.1111/aos.15690. Epub 2023 May 5.
2
Optical Coherence Tomography Angiography Demonstrates Strain and Volume Effects on Optic Disk and Peripapillary Vasculature Caused by Horizontal Duction.光学相干断层扫描血管造影显示水平直肌牵拉对视盘和视盘周围血管的应变和容积效应。
Curr Eye Res. 2023 May;48(5):518-527. doi: 10.1080/02713683.2023.2172185. Epub 2023 Feb 27.
3
Rates of Visual Field Change in Eyes With Optic Disc Drusen.
视盘玻璃疣眼中的视野变化率。
J Neuroophthalmol. 2023 Sep 1;43(3):353-358. doi: 10.1097/WNO.0000000000001801. Epub 2023 Jan 18.
4
A Comparison of Diagnostic Accuracy of Imaging Modalities to Detect Optic Disc Drusen: The Age of Enhanced Depth Imaging Optical Coherence Tomography.增强深度成像光学相干断层扫描成像技术对检测视盘玻璃疣的诊断准确性比较。
Am J Ophthalmol. 2023 Apr;248:137-144. doi: 10.1016/j.ajo.2022.12.004. Epub 2022 Dec 11.
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Clinical and genetic analysis in Chinese children with Alagille syndrome.中文儿童 Alagille 综合征的临床与遗传学分析。
BMC Pediatr. 2022 Nov 29;22(1):688. doi: 10.1186/s12887-022-03750-z.
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Optic disc drusen in patients diagnosed with normal tension glaucoma.被诊断为正常眼压性青光眼患者的视盘小凹
Acta Ophthalmol. 2023 May;101(3):277-284. doi: 10.1111/aos.15286. Epub 2022 Nov 14.
7
Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report.疑似 Bietti 结晶性视网膜营养不良合并视神经乳头玻璃膜疣:一例报告。
J Med Case Rep. 2022 Nov 2;16(1):413. doi: 10.1186/s13256-022-03581-7.
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Eye (Lond). 2023 May;37(7):1496-1502. doi: 10.1038/s41433-022-02155-7. Epub 2022 Jul 16.
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