Department of Anatomic Pathology, Cleveland Clinic, Cleveland, OH 44195, USA.
J Neuroophthalmol. 2011 Mar;31(1):20-4. doi: 10.1097/WNO.0b013e3181f45dba.
Autosomal dominant retinocerebral vasculopathy with cerebral leukodystrophy (RVCL) is a rare neurovascular syndrome causing retinal and central nervous system vasculopathy often recognized as contrast-enhancing white matter changes or pseudotumors on imaging. Heterozygous frameshift mutations in the 3-prime repair exonuclease 1 gene have been identified in families affected by RVCL. Variable light microscopic findings and a characteristic ultrastructural appearance of the vasculature in the brain have been reported. Description of the ophthalmic histopathology is exceedingly rare. Here, we report previously undescribed bilateral eye findings in a patient diagnosed with RVCL. The ophthalmic pathology includes thickening and reduplication of the retinal capillary basal lamina demonstrated by electron microscopy. These findings expand what is known about this disease and help further delineate its phenotype.
常染色体显性视网膜脑血管病伴脑白质营养不良（RVCL）是一种罕见的神经血管综合征，常导致视网膜和中枢神经系统血管病，在影像学上表现为对比增强的白质改变或假性肿瘤。在受 RVCL 影响的家族中已发现 3′-末端修复外切核酸酶 1 基因的杂合框移突变。据报道，大脑血管具有可变的光镜检查结果和特征性超微结构外观。眼部组织病理学的描述极为罕见。在这里，我们报告了一名 RVCL 患者以前未描述的双眼发现。眼部病理学包括电子显微镜下显示的视网膜毛细血管基底膜增厚和重复。这些发现扩展了对这种疾病的认识，并有助于进一步描绘其表型。
