PREVALENCE OF RETINITIS PIGMENTOSA IN MAINE
PREVALENCE OF RETINITIS PIGMENTOSA IN MAINE
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DOI：
10.1016/0002-9394(84)90636-6
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发表时间：
1984-01-01
影响因子：
4.2
通讯作者：
RODERICK, TH
中科院分区：
文献类型：
--
作者：
BUNKER, CH;BERSON, EL;RODERICK, TH
1976-1980年间，利用医疗和社会服务来源确定了缅因州[美国]的视网膜色素变性病例(1980年人口，1,124,660人)。截至1980年7月1日，共确诊视网膜色素变性临床流行病例241例。收集了185名受试者的广泛家系，并获得了医疗记录。2例(114眼)通过临床检查，包括视网膜电描记术进一步评估。调整了误诊(8/114，7%)和确诊不足(23/185，12.5%)后，缅因州视网膜色素变性的患病率为236例，21/100,000人口或1：4,756。不包括Usher综合征和Bardet-Biedl综合征，患病率为1：5,193。估计将受到非综合征视网膜色素变性影响的出生发病率为1：3,544。每年新诊断病例的发病率约为6/100万人口。在85个家系中，常染色体显性遗传16个(19%)，常染色体隐性或孤立病例55个(65%)，X连锁隐性7个(8%)，未按传播方式分类的7个(8%)。
Between 1976-1980, medial and social service sources were used to ascertain cases of retinitis pigmentosa in Maine [USA] (1980 population, 1,124,660). As of July 1, 1980, 241 clinically prevalent cases of retinitis pigmentosa were ascertained. Extensive pedigrees were collected for 185 of the subjects and medical records were obtained. Cases (114) were further evaluated by clinical examination, including electroretinography. Adjusting for incorrect diagnosis (8 of 114, 7%) and underascertainment (23 of 185, 12.5%) prevalence of retinitis pigmentosa in Maine was 236 cases, 21/100,000 population or 1:4,756. Excluding Usher and Bardet-Biedl syndromes, the prevalence is 1:5,193. Estimated birth incidence of persons who will become affected with nonsyndrome retinitis pigmentosa is 1:3,544. Incidence of newly diagnosed cases per year is about 6/1,000,000 population. Among kindreds, 16 of 85 (19%) were autosomal dominant, 55 of 85 (65%) autosomal recessive or isolated cases, 7 of 85 (8%) X-linked recessive, and 7 of 85 (8%) not classified by mode of transmission.