ANTERIOR POLAR CATARACT IN 2 SISTERS WITH AN UNBALANCED 3-18 CHROMOSOMAL TRANSLOCATION

Citation
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
Citations number
8
Categorie Soggetti
Ophthalmology
ISSN journal
00029394
Volume
117
Issue
4
Year of publication
1994
Pages
512 - 515
Database
ISI
SICI code
0002-9394(1994)117:4<512:APCI2S>2.0.ZU;2-H
Abstract
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.