Chynoranský M
Katedra oftalmológie LF UK, Bratislava.
Cesk Oftalmol. 1990 May;46(3):167-72.
The author describes the rare occurrence of congenital bilateral anophthalmos in a child with unilateral microphthalmus in the mother. The grandmother worked for a long time as an X-ray laboratory assistant without adequate protection against ionizing radiation. The cause of the development of pathological conditions in our proband and his mother is most probably a dominant "de novo" mutation in the germinal cells of the grandmother exposed to radiation. The transmission is according to our findings autosomal dominating with a variable expressivity.
作者描述了一名母亲患有单侧小眼畸形的儿童罕见地出现先天性双侧无眼畸形的情况。祖母长期担任X射线实验室助理,未得到充分的电离辐射防护。我们的先证者及其母亲出现病理状况的原因很可能是祖母暴露于辐射的生殖细胞中发生了显性“新发”突变。根据我们的研究结果,其遗传方式为常染色体显性遗传,表现度可变。