Bilateral congenital anophthalmos
Chynoranský, M.
Ceskoslovenska Oftalmologie 46(3): 167-172
1990
ISSN/ISBN: 0009-059X PMID: 2354533 Document Number: 366865
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.