Prevalence of Generalized Retinal Dystrophy in Denmark
Prevalence of Generalized Retinal Dystrophy in Denmark
复制标题
DOI：
10.3109/09286586.2014.929710
复制
发表时间：
2014-08-01
影响因子：
1.8
通讯作者：
Rosenberg, Thomas
中科院分区：
文献类型：
--
作者：
Bertelsen, Mette;Jensen, Hanne;Rosenberg, Thomas
目的：广泛性视网膜营养不良是年轻人视力障碍和失明的常见原因，也是新的临床干预试验的主题。尽管如此，全国范围内广泛性视网膜营养不良的流行病学数据却很少。本研究的目的是检查丹麦人群中广泛性视网膜营养不良的患病率和诊断范围。方法：一项基于人群的横断面研究，数据来自丹麦视网膜色素变性登记处，其中包括从 19 世纪至今丹麦所有患有广泛性视网膜和脉络膜视网膜营养不良的患者。在 3076 例登记病例中，广泛性视网膜营养不良的初步诊断是通过图表审查进行评估的，包括眼底照片和视网膜电图。丹麦人口的人口统计数据取自丹麦统计局。结果：2013 年 1 月 1 日，在 5,602,628 名丹麦公民中，有 1622 名患者登记为患有广泛性视网膜营养不良，并且仍在丹麦生活，对应的患病率为 1:3,454。在 28% 的病例中，眼部疾病是综合征的一部分，而其余 72% 的病例仅患有眼部疾病。除单发病例（45%）外，最常见的遗传模式是常染色体隐性遗传（23%）。结论：这项流行病学调查表明，丹麦人群中广泛性视网膜营养不良的患病率为1:3454。许多营养不良症都是临床干预试验的对象，全国范围内的流行病学数据可以帮助评估疾病的负担和未来的治疗需求。
Purpose: Generalized retinal dystrophy is a frequent cause of visual impairment and blindness in younger individuals and a subject of new clinical intervention trials. Nonetheless, there are few nation-wide population-based epidemiological data of generalized retinal dystrophy. The purpose of this study was to examine the prevalence and diagnostic spectrum of generalized retinal dystrophy in the Danish population.Methods: A population-based cross-sectional study with data from the Danish Retinitis Pigmentosa Registry that comprises all patients in Denmark with generalized retinal and chorioretinal dystrophies from the 19th century to the present. Among 3076 registered cases, the primary diagnosis of generalized retinal dystrophy was assessed by chart review, including fundus photographs and electroretinograms. Demographic data on the Danish population were retrieved from Statistics Denmark.Results: Of the 5,602,628 Danish citizens on January 1, 2013, 1622 patients were registered as having a generalized retinal dystrophy and were alive and living in Denmark, corresponding to a prevalence of 1: 3,454. In 28% of cases the eye condition was part of a syndrome, while the remaining 72% had eye disease only. Aside from simplex cases (45%), the most common hereditary pattern was autosomal recessive (23%).Conclusion: This epidemiological survey demonstrates that the prevalence of generalized retinal dystrophy in the Danish population is 1:3454. Many of the dystrophies are the subjects of clinical intervention trials, and nation-wide epidemiological data can help assess the burden of the disease and the future need for treatment.