Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome.

IF 1.8 3区 医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Molecular Vision Pub Date : 2021-09-02 eCollection Date: 2021-01-01
Vittoria Murro, Myrta Lippera, Dario Pasquale Mucciolo, Letizia Canu, Tonino Ercolino, Giuseppina De Filpo, Dario Giorgio, Giovanna Traficante, Andrea Sodi, Gianni Virgili, Fabrizio Giansanti
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引用次数: 0

Abstract

Purpose: To describe genetic analysis, treatment results, and complications of patients affected by retinal capillary hemangioblastoma (RCH) in von Hippel Lindau (VHL) syndrome.

Methods: We collected 17 patients with VHL syndrome, who underwent a molecular test and an ophthalmic evaluation at the Eye Clinic of the University Hospital of Florence from January 2005 to February 2020. We focused on eyes showing RCHs examined using color fundus photographs, fluorescein angiography, and optical coherence tomography.

Results: Eight eyes of six patients (6/17; 35%) showed RCHs at the fundoscopic examination. All RCHs were treated with laser therapy. Three eyes underwent episcleral surgery, one eye showing vitreous hemorrhage received three intravitreal (IV) anti-VEGF injections and three cryotherapy procedures, and one eye underwent vitrectomy. In patients with RCHs, five were characterized by a truncating mutation of the VHL protein, and one patient showed a missense mutation. We have reported two VHL mutations not reported in literature.

Conclusions: Patients with multiple RCHs, who developed RCH secondary effects, showed truncating mutations of the VHL protein. We recommend early screening and close monitoring, especially if RCHs are detected at presentation, for every patient with VHL syndrome independently of the results of the molecular test for a missense or a truncating mutation in VHL.

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von Hippel - Lindau综合征视网膜毛细血管母细胞瘤患者的预后和遗传分析。
目的:描述von Hippel Lindau (VHL)综合征视网膜毛细血管母细胞瘤(RCH)患者的遗传分析、治疗结果和并发症。方法:我们收集了17例VHL综合征患者,于2005年1月至2020年2月在佛罗伦萨大学医院眼科诊所进行了分子检测和眼科评估。我们聚焦于使用彩色眼底照片、荧光素血管造影和光学相干断层扫描检查显示RCHs的眼睛。结果:6例患者8眼(6/17;35%)眼底镜检查显示RCHs。所有RCHs均采用激光治疗。3只眼行锁骨外手术,1只眼因玻璃体出血接受3次玻璃体内抗vegf注射和3次冷冻治疗,1只眼行玻璃体切除术。在RCHs患者中,5例患者表现为VHL蛋白的截断突变,1例患者表现为错义突变。我们报道了两个文献中未报道的VHL突变。结论:多发RCHs患者出现RCH继发性效应,VHL蛋白出现截断突变。我们建议对每一位VHL综合征患者进行早期筛查和密切监测,特别是如果在发病时检测到RCHs,而不依赖于VHL错义或截断突变的分子检测结果。
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来源期刊
Molecular Vision
Molecular Vision 生物-生化与分子生物学
CiteScore
4.40
自引率
0.00%
发文量
25
审稿时长
1 months
期刊介绍: Molecular Vision is a peer-reviewed journal dedicated to the dissemination of research results in molecular biology, cell biology, and the genetics of the visual system (ocular and cortical). Molecular Vision publishes articles presenting original research that has not previously been published and comprehensive articles reviewing the current status of a particular field or topic. Submissions to Molecular Vision are subjected to rigorous peer review. Molecular Vision does NOT publish preprints. For authors, Molecular Vision provides a rapid means of communicating important results. Access to Molecular Vision is free and unrestricted, allowing the widest possible audience for your article. Digital publishing allows you to use color images freely (and without fees). Additionally, you may publish animations, sounds, or other supplementary information that clarifies or supports your article. Each of the authors of an article may also list an electronic mail address (which will be updated upon request) to give interested readers easy access to authors.
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