Epidemiology of aniridia in Sweden and Norway
Epidemiology of aniridia in Sweden and Norway
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DOI：
10.1111/j.1755-3768.2008.01309.x
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发表时间：
2008-11-01
影响因子：
3.4
通讯作者：
Tornqvist, Kristina
中科院分区：
文献类型：
--
作者：
Eden, Ulla;Iggman, David;Tornqvist, Kristina
目的：调查瑞典和挪威人群中无虹膜的流行病学。方法：在瑞典和挪威进行了无虹膜患者的彻底搜索。所有参与者都通过摄影记录了临床眼科检查。结果：两国共检出181例无虹膜患者。这表明，整个区域的年龄别流行率为1：72 000，瑞典为1：70 000，挪威为1：76 000。共有124人（69%）接受了检查。男女比例为0.94（瑞典0.85，挪威1.2）。受检患者的平均年龄为29岁，中位年龄为25岁。我们两国之间没有任何明显的年龄差异。平均视力（VA）为0.19（瑞典0.19和挪威0.18）。有一个以上患病成员的家庭数为31个，散发病例数为40个。结论：我们做了全面的文献检索，但我们没有发现早期的研究描述整个国家的无虹膜，只有少数报告，从更大的地区。我们假设大多数无虹膜患者已被发现，1：72 000的无虹膜患病率可以被认为是很好的支持。关于无虹膜其他方面的进一步研究正在进行中，这些信息可以为这种罕见但严重疾病患者的护理提供指导。
Purpose: To investigate the epidemiology of aniridia in the populations of Sweden and Norway.Methods: A thorough search for aniridia patients has been performed in Sweden and Norway. All participants had a clinical ophthalmological examination documented through photography. Blood samples were taken for mutation analysis and pedigrees were established.Results: A total of 181 patients with aniridia were identified in the two countries. This gives an age-specific prevalence of 1: 72 000 in the entire region, 1: 70 000 in Sweden and 1: 76 000 in Norway. A total of 124 individuals (69%) were examined. Male/female ratio was 0.94 (Sweden 0.85 and Norway 1.2). Mean age of the examined patients was 29 years and median age 25 years. We did not and any significant age difference between the two countries. The mean visual acuity (VA) was 0.19 (Sweden 0.19 and Norway 0.18). The number of families with more than one affected member was 31 and the number of sporadic cases was 40.Conclusion: We have done a thorough search of the literature, but we have found no earlier studies describing aniridia in an entire country and only a few reports from larger areas. We assume that most aniridia patients have been found and the aniridia prevalence of 1: 72 000 can be regarded as well supported. Further studies on other aspects of aniridia are in progress, and information from these can contribute to guidelines for the care of patients with this rare but serious disease.