Preising M N, Steinmüller P H T, Lorenz B
Klinik und Poliklinik für Augenheilkunde, Justus-Liebig-Universität, Gießen.
Klin Monbl Augenheilkd. 2015 Oct;232(10):1158-64. doi: 10.1055/s-0041-105409. Epub 2015 Oct 29.
The cause and origin of primary strabismus are not well understood. It is thought that there is multifactorial genetic inheritance. Only linkage analysis has been applied to study the genetic causes and correlations. The objective of this study was the compilation and statistical evaluation of a useful cohort of families for linkage analysis.
The archives of the Department of Ophthalmology of the Justus-Liebig-University Gießen were used as a database for this study. Medical records of visits between January 2001 and July 2008 were analysed. Evaluation was based on the medical history form. The data set was scanned for index families in which at least two members had any form of primary strabismus. Patients were classified according to their type of primary strabismus. Families who were most suitable for linkage analysis were approached. A disease specific questionnaire was developed to complete the data.
Between January 2001 and July 2008, 20,813 patients affected by primary strabismus were treated. The data set contained 2380 patients with a positive family history of primary strabismus. The majority presented with esotropia (67 %), followed by exotropia (21 %). In most cases (80 %), two family members were affected and the child-parent relationship contributed the largest group, including 948 cases (40 %). Affected siblings were found in 397 families (17 %). Three affected patients were identified in 432 (18 %) families. In these, the relationship parent-child-sibling occurred most frequently, with 143 cases (6 %). A positive family history of at least four related patients was found in 46 families (2 %). Forty-two families were particularly suitable for linkage analysis. Seventeen of the 42 families answered a questionnaire aimed at improving the data set. Three families finally participated in ophthalmic examinations and agreed to blood sampling to perform linkage analysis.
The fraction of families with strabismus patients in more than two consecutive generations was extremely low. If these families are included in any study, this should be coupled to treatment to improve compliance.
原发性斜视的病因和起源尚未完全明确。人们认为其存在多因素遗传。目前仅应用连锁分析来研究遗传病因及相关性。本研究的目的是收集并统计评估一组对连锁分析有用的家系。
将吉森尤斯 - 利比希大学眼科的档案用作本研究的数据库。分析了2001年1月至2008年7月期间的就诊病历。评估基于病史表格。在数据集中搜索至少有两名成员患有任何形式原发性斜视的索引家系。患者根据原发性斜视的类型进行分类。联系了最适合连锁分析的家系。设计了一份针对特定疾病的问卷以完善数据。
2001年1月至2008年7月期间，共治疗了20813例原发性斜视患者。数据集中有2380例患者有原发性斜视的阳性家族史。大多数患者表现为内斜视（67%），其次是外斜视（21%）。在大多数情况下（80%），有两名家庭成员患病，其中亲子关系的病例最多，包括948例（40%）。在397个家系（17%）中发现了患病的兄弟姐妹。在432个（18%）家系中发现有三名患者患病。在这些家系中，亲子 - 兄弟姐妹关系最为常见，有143例（6%）。在46个家系（2%）中发现至少有四名相关患者的阳性家族史。42个家系特别适合连锁分析。42个家系中有17个回答了旨在完善数据集的问卷。最终有3个家系参加了眼科检查并同意采血以进行连锁分析。
连续两代以上有斜视患者的家系比例极低。如果将这些家系纳入任何研究，应结合治疗以提高依从性。
