PURPOSE:The purpose of the study was to ascertain the prevalence of plateau iris syndrome in the first-degree relatives of those patients affected with plateau iris syndrome. METHODS:All patients seen with plateau iris syndrome over a 5-year period were identified. These patients were approached for participation and first-degree family members above 18 years of age were screened. All people identified with plateau iris configuration underwent ultrasound biomicroscopy to document and confirm the angle configuration and subsequent gonioscopy after laser iridotomies. RESULTS:Sixteen patients were identified; 3 refused to participate, 2 were unable to be contacted, and 1 withdrew after initially consenting to participate. In this case, the patient agreed to participate, but all her living first-degree family members refused to be screened. Among the 10 patients whose living first-degree relatives were screened, we found 5 families with at least 1 additional first-degree family member having plateau iris syndrome. CONCLUSIONS:Some families have more than 1 member with plateau iris syndrome. The pattern of inheritance resembles an autosomal dominant pattern with incomplete penetrance.

译文

目的:本研究的目的是确定患有高原虹膜综合征的患者的一级亲属中高原虹膜综合征的患病率。
方法:确定所有在5年内见过高原虹膜综合征的患者。向这些患者寻求参与,并对年龄在18岁以上的一级家庭成员进行了筛查。识别出高原虹膜构型的所有人均接受了超声生物显微镜检查,以记录并确认激光虹膜切开术后的角度构型和随后的角膜镜检查。
结果:确定了16例患者。 3位拒绝参加,2位无法联系,1位在最初同意参加后退出。在这种情况下,患者同意参加,但是她所有在世的一级家庭成员都拒绝接受筛查。在筛选了其一级亲属的10例患者中,我们发现5个家庭中至少有1个一级虹膜综合征的一级家庭成员。
结论:一些家庭的高原虹膜综合征患者超过1个。遗传模式类似于具有不完全外显的常染色体显性模式。

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