Anterior polar cataract in two sisters with an unbalanced 3;18 chromosomal translocation.
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 and the short arm of chromosome 18. Their mother had a balanced translocation 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 genes, patients with chromosomal abnormalities should have careful ophthalmic examinations, and their lenticular findings should be reported.
Rubin
S E
SE
Department of Ophthalmology, North Shore University Hospital, Manhasset, New York 11030.
Nelson
L B
LB
Pletcher
B A
BA
D002386:Cataract / Q000151:congenital / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D002893:Chromosomes, Human, Pair 3; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy