Se. Rubin et al., ANTERIOR POLAR CATARACT IN 2 SISTERS WITH AN UNBALANCED 3-18 CHROMOSOMAL TRANSLOCATION, American journal of ophthalmology, 117(4), 1994, pp. 512-515
Congenital anterior polar cataracts can be associated with chromosomal
abnormalities. We treated two sisters with this condition who had the
same unbalanced translocation between the long arm of chromosome 3 an
d the short arm of chromosome 18. Their mother had a balanced transloc
ation between those chromosomes but had no cataract. Both sisters had
dysmorphic features. Their genetic status resulted in partial trisomy
of the long arm of chromosome 3 and partial monosomy of the short arm
of chromosome 18. To aid in the identification of specific cataract ge
nes, patients with chromosomal abnormalities should have careful ophth
almic examinations, and their lenticular findings should be reported.