Cataract, anterior polar   203

General: Autosomal dominant; imperfect separation of lens from surface ectoderm during fifth week of embryologic development; abnormal mass in region of anterior pole and incomplete resorption of blood vessels and mesoderm at anterior pole of embryonic lens; they can be associated with chromosomal abnormalities including 3, 18 chromosomal translocation.

Ocular: Small opacities on anterior surface of lens; microphthalmia; cataracts usually do not interfere with vision; corneal astigmatism.

Clinical: None.

Bouzas AG. Anterior polar congenital cataract and corneal astigmatism. J Pediatr Ophthalmol Strabismus 1992; 29: 210-212.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Moross T, et al. Autosomal dominant anterior polar cataracts associated with a familial translocation. J Med Genet 1984; 21:52-53.

Rubin SE, et al. Anterior polar cataract in two sisters with an unbalanced 3, 18 chromosomal translocation. Am J Ophthalmol 1994; 117:512-515.