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弹性假黄瘤继发血管样条纹和脉络膜新生血管膜:一例报告

Angioid Streaks and Choroidal Neovascular Membrane Secondary to Pseudoxanthoma Elasticum: A Case Report.

作者信息

Redden Liam, Mishra Anuradha

机构信息

Ophthalmology, Dalhousie University, Halifax, CAN.

出版信息

Cureus. 2024 Apr 12;16(4):e58104. doi: 10.7759/cureus.58104. eCollection 2024 Apr.

DOI:10.7759/cureus.58104
PMID:38741802
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11088954/
Abstract

Angioid streaks (AS) are recognized as irregular, linear dehiscences of Bruch's membrane, often associated with systemic diseases. We present the case of a 50-year-old woman initially diagnosed with AS during a routine optometric examination. Subsequent ophthalmological evaluation revealed bilateral AS with calcified drusen. Two years post-diagnosis, she developed blurred vision in her right eye due to the choroidal neovascular membrane adjacent to the macular AS. Further evaluation uncovered clinical signs consistent with pseudoxanthoma elasticum (PXE), including characteristic skin lesions. A multidisciplinary approach involving ophthalmology, dermatology, and cardiovascular specialists was initiated. Histopathological confirmation of PXE was obtained through a skin biopsy. PXE, an autosomal recessive disorder characterized by elastin calcification, presents systemic manifestations necessitating comprehensive evaluation and monitoring. This case demonstrates the importance of recognizing ocular complications in PXE and advocates for early multidisciplinary intervention to mitigate potential vision and life-threatening outcomes.

摘要

血管样条纹(AS)是指 Bruch 膜的不规则线性裂开,常与全身性疾病相关。我们报告一例 50 岁女性病例,该患者在常规验光检查中最初被诊断为 AS。随后的眼科评估发现双侧 AS 伴有钙化性玻璃膜疣。诊断两年后,她右眼因黄斑 AS 附近的脉络膜新生血管膜而出现视力模糊。进一步评估发现了与弹性假黄瘤(PXE)一致的临床体征,包括特征性皮肤病变。启动了由眼科、皮肤科和心血管专科医生参与的多学科诊疗方法。通过皮肤活检获得了 PXE 的组织病理学确诊。PXE 是一种以弹性蛋白钙化特征的常染色体隐性疾病,具有全身性表现,需要进行全面评估和监测。该病例表明认识 PXE 眼部并发症的重要性,并提倡早期多学科干预以减轻潜在的视力和危及生命的后果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8372/11088954/6248b57745cc/cureus-0016-00000058104-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8372/11088954/19f3deb2b7e3/cureus-0016-00000058104-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8372/11088954/6248b57745cc/cureus-0016-00000058104-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8372/11088954/19f3deb2b7e3/cureus-0016-00000058104-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8372/11088954/6248b57745cc/cureus-0016-00000058104-i02.jpg

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本文引用的文献

1
ANGIOID STREAKS: A Comprehensive Review From Pathophysiology to Treatment.血管性条纹:从病理生理学到治疗的全面综述。
Retina. 2019 Jan;39(1):1-11. doi: 10.1097/IAE.0000000000002327.
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Pseudoxanthoma elasticum.弹性假黄瘤
Orphanet J Rare Dis. 2017 May 10;12(1):85. doi: 10.1186/s13023-017-0639-8.
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Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.假性黄色瘤弹性组织营养不良家系中心血管受累的特征。
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Angioid streaks, clinical course, complications, and current therapeutic management.脉络膜血管样条纹:临床病程、并发症及当前治疗管理。
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