Division of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
Ophthalmology. 2012 Dec;119(12):2622-30. doi: 10.1016/j.ophtha.2012.06.026. Epub 2012 Aug 17.
Characterization of the structural and functional progression of ocular von Hippel-Lindau (VHL) disease and analysis of patient factors influencing disease progression.
Retrospective analysis of a case series from a longitudinal, observational study.
Two hundred forty-nine participants with clinically defined systemic VHL disease and more than 2 years of ophthalmic follow-up.
Standardized scoring of ocular phenotype and systemic characteristics was performed at each study visit and was analyzed longitudinally to determine progression of ocular VHL disease.
Measures evaluated include: visual acuity, features of ocular VHL disease (presence, location, number, and extent of retinal capillary hemangioblastomas [RCHs]), germline mutation in the VHL gene, demographics (age, gender, age at onset of ocular disease), and patient characteristics (smoking status, body mass index).
Most participants demonstrated relative anatomic and functional stability in ocular VHL disease status over a mean follow-up of 8.2 ± 4.0 years. Approximately three quarters (73%) of participants without ocular VHL disease at baseline remained disease free at the end of follow-up. Among eyes with ocular VHL disease at baseline, 88% did not demonstrate RCHs in a new retinal location, 70% remained stable in RCH number, and 79% remained stable in the extent of RCH involvement. Mean visual acuity for all study eyes (n = 498) decreased by 5.1 ± 0.6 letters across follow-up, with 16.1% of study eyes decreasing by more than 10 letters in visual acuity. Among eyes affected at baseline, greater vision loss was associated with the presence of juxtapapillary RCHs, development of RCH in a new location, and increase in peripheral RCH number and extent. Younger baseline age, younger age at onset of ocular VHL disease, involvement of the fellow eye with ocular VHL disease, and missense or protein-truncating germline mutations were associated significantly with increased anatomic involvement and functional deterioration.
Patients with ocular VHL disease maintain relative anatomic and functional stability, with only a minority demonstrating marked anatomic progression and vision loss. Systemic and ocular risk factors for anatomic progression and vision loss can help practitioners identify patients with a higher risk profile for counseling, closer follow-up, and proactive treatment.
FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.
描述眼部 von Hippel-Lindau（VHL）病的结构和功能进展，并分析影响疾病进展的患者因素。
对一项纵向观察性研究中的病例系列进行回顾性分析。
249 名患有临床定义的系统性 VHL 疾病且眼部随访时间超过 2 年的参与者。
在每次研究就诊时对眼部表型和全身特征进行标准化评分，并进行纵向分析以确定眼部 VHL 疾病的进展情况。
评估的指标包括：视力、眼部 VHL 疾病特征（存在、位置、数量和视网膜毛细血管血管瘤[RCH]的程度）、VHL 基因突变、人口统计学特征（年龄、性别、眼部疾病发病年龄）和患者特征（吸烟状况、体重指数）。
在平均 8.2±4.0 年的随访中，大多数参与者的眼部 VHL 疾病状态在解剖学和功能上相对稳定。约 3/4（73%）无基线眼部 VHL 疾病的参与者在随访结束时仍无疾病。在基线时有眼部 VHL 疾病的眼中，88%的新视网膜位置没有 RCH，70%的 RCH 数量保持稳定，79%的 RCH 受累程度保持稳定。所有研究眼（n=498）的平均视力均下降 5.1±0.6 个字母，16.1%的研究眼视力下降超过 10 个字母。在基线时受影响的眼中，更大的视力丧失与视盘旁 RCH 的存在、新位置的 RCH 发展以及周边 RCH 数量和程度的增加有关。基线年龄较小、眼部 VHL 疾病发病年龄较小、对侧眼患有眼部 VHL 疾病以及错义或蛋白截断种系突变与解剖学受累和功能恶化显著相关。
患有眼部 VHL 疾病的患者保持相对的解剖学和功能稳定性，只有少数患者表现出明显的解剖学进展和视力丧失。影响解剖学进展和视力丧失的系统和眼部危险因素有助于医生识别出具有更高风险特征的患者，以便进行咨询、更密切的随访和积极的治疗。
作者没有与本文讨论的任何材料有关的专有或商业利益。
