The Phenotypic Spectrum of Albinism
The Phenotypic Spectrum of Albinism
复制标题
DOI：
10.1016/j.ophtha.2018.08.003
复制
发表时间：
2018-12-01
期刊：
影响因子：
13.7
通讯作者：
van Genderen, Maria M.
中科院分区：
文献类型：
--
作者：
Kruijt, Charlotte C.;de Wit, Gerard C.;van Genderen, Maria M.
目的：描述一个大队列的白化病患者的表型谱，研究眼部异常与视力（VA）之间的关系，并确定白色人群的诊断标准。我们还估计了白化病的患病率在Netherlands.Design：回顾性队列研究。Participants：我们调查了522例白化病患者的表型从数据库的Bartimeus（452例），莱顿大学医学中心（44例），和学术医学中心阿姆斯特丹（26 patients）。我们使用虹膜透明、眼底色素减退和中心凹发育不全的分级方案。主要结果测量：视力、眼球震颤、虹膜透明、眼底色素沉着、中心凹发育不全和走错路线。7.7%（40/521）无眼球震颤，8.9%（44/492）虹膜不透明，3.8%（19/496）眼底色素完全正常，0.7%（3/455）无黄斑中心凹发育不良，16.1%（49/304）未确定走错。VA范围为最小分辨角的对数（logMAR）的-0.1到1.3。中心凹发育不全分级与视力相关性最好（r = 0.69，P < 0.001），而虹膜透明、眼底色素沉着和走错路线对视力无显著预测作用。我们估计在荷兰白化病的患病率至少为1：12000。结论：在我们的队列中，白化病的特征都不一致。为了能够区分白化病与其他条件相似的眼部功能，特别是在北方和西欧国家，我们提出了主要和次要的临床标准。主要标准是（1）2级或以上的中心凹发育不全，（2）路线错误，和（3）眼部色素减退，虹膜不透明或眼底色素减退2级或以上。次要标准为（1）眼球震颤，（2）皮肤和毛发色素减退，（3）1级眼底色素减退，（4）1级中心凹发育不全。我们建议，3个主要标准或2个主要和2个次要标准是必要的诊断。在存在分子诊断的情况下，1个主要标准或2个次要标准将是足够的。(C)2018年美国眼科学会
Purpose: To describe the phenotypic spectrum of a large cohort of albino patients, to investigate the relationship between the ocular abnormalities and the visual acuity (VA), and to define diagnostic criteria for the white population. We also estimated the prevalence of albinism in The Netherlands.Design: Retrospective cohort study.Participants: We investigated the phenotype of 522 patients with albinism from the databases of Bartimeus (452 patients), Leiden University Medical Center (44 patients), and the Academic Medical Center Amsterdam (26 patients).Methods: We collected clinical, genetic, and electrophysiologic data of patients with albinism. We used grading schemes for iris translucency, fundus hypopigmentation, and foveal hypoplasia.Main Outcome Measures: Visual acuity, nystagmus, iris translucency, fundus pigmentation, foveal hypoplasia, and misrouting.Results: Nystagmus was absent in 7.7% (40/521), iris translucency could not be detected in 8.9% (44/492), 3.8% (19/496) had completely normal fundus pigmentation, 0.7% (3/455) had no foveal hypoplasia, and misrouting was not established in 16.1% (49/304). The VA varied from - 0.1 to 1.3 logarithm of the minimum of angle of resolution (logMAR). The foveal hypoplasia grading correlated best with the VA (r = 0.69, P < 0.001), whereas iris translucency, fundus pigmentation, and misrouting did not predict the VA significantly. We estimated a prevalence of albinism in The Netherlands of at least 1: 12 000.Conclusions: None of the characteristics of albinism were consistently present in our cohort. To be able to distinguish albinism from other conditions with similar ocular features, especially in northern and western European countries, we propose major and minor clinical criteria. Major criteria would be (1) foveal hypoplasia grade 2 or more, (2) misrouting, and (3) ocular hypopigmentation, either iris translucency or fundus hypopigmentation grade 2 or more. Minor criteria would be (1) nystagmus, (2) hypopigmentation of skin and hair, (3) grade 1 fundus hypopigmentation, and (4) foveal hypoplasia grade 1. We propose that 3 major criteria or 2 major and 2 minor criteria are necessary for the diagnosis. In the presence of a molecular diagnosis, 1 major criterion or 2 minor criteria will be sufficient. (C) 2018 by the American Academy of Ophthalmology