[Bilateral congenital anophthalmos].
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.
Chynoranský
M
M
Katedra oftalmológie LF UK, Bratislava.
D000853:Anophthalmos / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D006801:Humans; D008297:Male; D010375:Pedigree
Obojstranný vrodený anoftalmus.