Late onset is common in best macular dystrophy associated with VMD2 gene mutations
Late onset is common in best macular dystrophy associated with VMD2 gene mutations
复制标题
DOI：
10.1016/j.ophtha.2004.10.041
复制
发表时间：
2005-04-01
期刊：
影响因子：
13.7
通讯作者：
Kellner, U
中科院分区：
文献类型：
--
作者：
Renner, AB;Tillack, H;Kellner, U
目的：对与VMD2基因突变相关的最佳黄斑营养不良（BMD）进行详细的形态学和功能评估。设计：回顾性研究。参与者：回顾性评估16例BMD和VMD2杂合突变患者（1组）和5例Best-like病变，VMD2基因未检测到疾病相关改变的患者（2组）。方法：回顾了视力（VA）、色觉、视力、视网膜色素上皮（RPE）自身荧光、荧光素血管造影、眼电图（EOG）、全视场视网膜电图（ERG）和多焦ERG （mfERG）的资料。主要观察指标：VMD2突变、BMD发病年龄、RPE自身荧光、EOG、ERG和mfERG。结果：1组患者平均年龄47.1岁（范围16.7 ~ 86.5岁），起病年龄5 ~ 58岁（中位42.0岁）。视力在20/16到20/400之间（中位数，20/40）。VMD2突变的特异性与疾病发病或表达性之间不存在关联。视网膜色素上皮自身荧光相应于镜下可见的黄色物质增加，而在骨密度萎缩期则减少。19只眼中有18只眼电眼光上升减少。视网膜电图波幅3例正常，6例下降。多焦点ERG显示20只眼中10只眼中央振幅降低，7只眼广泛性振幅降低。1组和2组患者的临床和功能表现无显著差异，但2组患者的平均年龄更高（64.0岁[范围，45.7-80.6]），中位VA更低（20/50[范围，20/32-20/320]）。结论：骨密度的发生是高度可变的，并且发生在大多数患者的第二个十年之后。无相关VMD2突变的老年患者可能出现Best-like病变。这些表现可能与一种特定形式的老年性黄斑变性有关。(c) 2005年美国眼科学会。
Purpose: To perform a detailed morphologic and functional evaluation of Best macular dystrophy (BMD) associated with mutations in the VMD2 gene.Design: Retrospective study.Participants: The records of 16 patients with BMD and heterozygous VMD2 mutations (group 1) and 5 patients with Best-like lesions with no detectable disease-associated alterations in the VMD2 gene (group 2) were evaluated retrospectively.Methods: The data were reviewed regarding visual acuity (VA), color vision, perimetry, autofluorescence of the retinal pigment epithelium (RPE), fluorescein angiography, electro-oculography (EOG), and full-field electroretinography (ERG) and multifocal ERG (mfERG).Main Outcome Measures: VMD2 mutations, age at onset of BMD, RPE autofluorescence, EOG, ERG, and mfERG.Results: The mean age of the patients in group 1 was 47.1 years (range, 16.7-86.5), and age at onset varied between 5 and 58 years (median, 42.0). Visual acuity ranged between 20/16 and 20/400 (median, 20/40). No association existed between the specific nature of the VMD2 mutation and disease onset or expressivity. Retinal pigment epithelium autofluorescence was increased corresponding to ophthalmoscopically visible yellow material, whereas it was decreased in the atrophic stage of BMD. Electro-oculography light rise was reduced in 18 of 19 eyes. Electroretinography amplitudes were normal in 3 patients and reduced in 6 patients. Multifocal ERG revealed in 10 of 20 eyes a central amplitude reduction and in 7 eyes a generalized one. There were no marked differences in clinical and functional findings between the patients in groups 1 and 2, except that the mean age of the patients in group 2 was higher (64.0 years [range, 45.7-80.6]) and the median VA lower (20/50 [range, 20/32-20/320]).Conclusions: The onset of BMD is highly variable and occurred in the majority of patients after the second decade of life. Best-like lesions may develop in older patients without associated VMD2 mutations. Those manifestations may be related to a specific form of age-related macular degeneration. (c) 2005 by the American Academy of Ophthalmology.