Abstract：
60-year-old woman referring visual disability. She presented bone spicule pigmentation and retinal atrophy in all peripheral retina, as well as macular retinal flecks. Multimodal imaging showed typical findings of both inherited retinal dystrophies (IRD). Electroretinogram confirmed rod dysfunction. Biallelic mutations were found in ABCA4 and CNGA1 genes. Although not common, different IRDs may be present in a same patient at the same time. This is the first reported case of the combination of RP with late-onset Stargardt\'s disease. We propose the name \'Stargardt\'s pigmentosa\' for this novel clinical entity.
摘要：
60岁的女性提到视力残疾。她在所有周边视网膜出现骨针色素沉着和视网膜萎缩，以及黄斑视网膜斑点。多模式成像显示了两种遗传性视网膜营养不良（IRD）的典型发现。视网膜电图证实棒功能障碍。在ABCA4和CNGA1基因中发现双等位基因突变。虽然不常见，不同的IRD可以同时存在于同一患者中。这是首例RP与迟发性Stargardt病合并的病例。我们建议将这种新型临床实体命名为“Stargardt的色素变性”。
