Longitudinal Analysis of Retinal Hemangioblastomatosis and Visual Function in Ocular von Hippel-Lindau Disease
Longitudinal Analysis of Retinal Hemangioblastomatosis and Visual Function in Ocular von Hippel-Lindau Disease
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DOI：
10.1016/j.ophtha.2012.06.026
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发表时间：
2012-12-01
期刊：
影响因子：
13.7
通讯作者：
Wong, Wai T.
中科院分区：
文献类型：
--
作者：
Toy, Brian C.;Agron, Elvira;Wong, Wai T.
目的：眼部von Hippel-Lindau（VHL）疾病的结构和功能进展的表征以及影响疾病进展的患者因素的分析。设计：来自纵向观察性研究的病例系列的回顾性分析。参与者：249名临床定义的全身性VHL疾病的参与者，眼科随访超过2年。方法：在每次研究访视时进行眼部表型和全身特征的标准化评分，并进行纵向分析以确定眼部VHL疾病的进展。视力，眼部VHL疾病的特征（视网膜毛细血管母细胞瘤[RCH]的存在、位置、数量和程度），VHL基因的种系突变，人口统计学（年龄、性别、眼部疾病发作时的年龄）和患者特征（吸烟状况、体重指数）。大多数参与者在平均8.2 +/- 4.0年的随访中表现出眼部VHL疾病状态的相对解剖和功能稳定性。大约四分之三（73%）的基线时无眼部VHL疾病的参与者在随访结束时仍然无疾病。在基线时患有眼部VHL疾病的眼睛中，88%在新的视网膜位置未显示RCH，70%的RCH数量保持稳定，79%的RCH累及程度保持稳定。随访期间，所有研究眼（n = 498）的平均视力下降5.1 +/- 0.6个字母，16.1%的研究眼视力下降超过10个字母。在基线时受累的眼睛中，更大的视力丧失与视乳头RCH的存在、RCH在新位置的发展以及外周RCH数量和范围的增加相关。年轻的基线年龄，年轻的年龄在发病的眼部VHL疾病，参与对方的眼睛与眼部VHL疾病，错义或蛋白质截短的种系突变显着增加解剖参与和功能恶化。结论：眼部VHL疾病患者保持相对的解剖和功能的稳定性，只有少数表现出显着的解剖进展和视力丧失。解剖进展和视力丧失的全身和眼部风险因素可以帮助从业者识别具有较高风险特征的患者进行咨询，密切随访和积极治疗。财务披露：作者对本文中讨论的任何材料没有专有或商业利益。Ophthalmology 2012;119：2622-2630（C）2012，美国眼科学会。
Objective: Characterization of the structural and functional progression of ocular von Hippel-Lindau (VHL) disease and analysis of patient factors influencing disease progression.Design: Retrospective analysis of a case series from a longitudinal, observational study.Participants: Two hundred forty-nine participants with clinically defined systemic VHL disease and more than 2 years of ophthalmic follow-up.Methods: 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.Main Outcome Measures: 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).Results: 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.Conclusions: 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. Ophthalmology 2012;119:2622-2630 (C) 2012 by the American Academy of Ophthalmology.