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圆锥角膜的遗传学方面(作者译)

[Genetic aspects of keratoconus (author's transl)].

作者信息

Hallermann W, Wilson E J

出版信息

Klin Monbl Augenheilkd. 1977 Jun;170(6):906-8.

PMID:894997
Abstract

The diverging views expressed in the literature on the inheritance of keratoconus gave us cause to examine the genetic relationships in 304 cases of keratoconus from our own clinic material. In the 22 cases (19 families) where two or more family members were affected, the genetic relationships generally indicated a multifactorial mode of inheritance, although isolated dominant or recessive variants could not be excluded. The assumption of a multifactorial inheritance is further supported by the occurrence of keratoconus in connection with various syndromes, as well as the fact that keratoconus does not only express itself in sharply defined stages, but also occurs in all possible degrees, from almost normal to the extreme.

摘要

文献中关于圆锥角膜遗传的观点不一,这促使我们根据自己临床资料中的304例圆锥角膜病例来研究其遗传关系。在22例(19个家系)中有两个或更多家庭成员患病的病例中,遗传关系总体上表明为多因素遗传模式,尽管不能排除孤立的显性或隐性变异情况。圆锥角膜与各种综合征相关的发生情况,以及圆锥角膜不仅在明确界定的阶段表现出来,而且在从几乎正常到极端的所有可能程度上都有发生这一事实,进一步支持了多因素遗传的假设。

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