Adult-onset foveomacular vitelliform dystrophy: A fresh perspective
Adult-onset foveomacular vitelliform dystrophy: A fresh perspective
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DOI：
10.1016/j.preteyeres.2015.02.001
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发表时间：
2015-07-01
影响因子：
17.8
通讯作者：
Boon, Camiel J. F.
中科院分区：
文献类型：
--
作者：
Chowers, Itay;Tiosano, Liran;Boon, Camiel J. F.
四十年前，Gass 首次描述了成人发病的黄斑黄斑卵黄样营养不良症 (AFVD)。 AFVD 的特点是视网膜下卵黄状黄斑病变，通常在 40 岁以后确诊。随着年龄的增长，病变逐渐增大，然后缩小，留下视网膜外层和视网膜色素上皮萎缩的区域。这个过程伴随着视力的丧失。卵黄状病变呈高自发荧光，在光学相干断层扫描中最初呈圆顶状外观。眼电图和全视野视网膜电图通常正常，表明局部视网膜病变。表型还与其他眼部疾病相关，例如玻璃体黄斑牵引、年龄相关性黄斑变性、假性玻璃膜疣和中心性浆液性脉络膜视网膜病变。少数 AFVD 患者存在 PRPH2、BEST1、IMPG1 或 IMPG2 基因突变。 HTRA1 基因中的单核苷酸多态性也与这种表型相关。因此，表型可以由光感受器、视网膜色素上皮和/或光感受器间基质的改变引起，这取决于潜在的基因缺陷。光感受器外节产生过多和/或由于吞噬作用受损而导致外节摄取受损可能是潜在机制。目前，AFVD 尚无治愈方法。因此，该领域当前的挑战包括确定大多数 AFVD 病例的根本原因以及开发有效的治疗方法。 (C) 2015 Elsevier Ltd. 保留所有权利。
Adult-onset foveomacular vitelliform dystrophy (AFVD) was first described by Gass four decades ago. AFVD is characterized by subretinal vitelliform macular lesions and is usually diagnosed after the age of 40. The lesions gradually increase and then decrease in size over the years, leaving an area of atrophic outer retina and retinal pigment epithelium. This process is accompanied by a loss of visual acuity. Vitelliform lesions are hyperautofluorescent and initially have a dome-shaped appearance on optical coherence tomography. The electro-oculogram and full-field electroretinogram are typically normal, indicating localized retinal pathology. Phenocopies are also associated with other ocular disorders, such as vitreomacular traction, age-related macular degeneration, pseudodrusen, and central serous chorioretinopathy. A minority of AFVD patients have a mutation in the PRPH2, BEST1, IMPG1, or IMPG2 genes. A single-nucleotide polymorphism in the HTRA1 gene has also been associated with this phenotype. Accordingly, the phenotype can arise from alterations in the photoreceptors, retinal pigment epithelium, and/or interphotoreceptor matrix depending on the underlying gene defect. Excess photoreceptor outer segment production and/or impaired outer segment uptake due to impaired phagocytosis are likely underlying mechanisms. At present, no cure is available for AFVD. Thus, the current challenges in the field include identifying the underlying cause in the majority of AFVD cases and the development of effective therapeutic approaches. (C) 2015 Elsevier Ltd. All rights reserved.