Ectopia Lentis with Ectopia of Pupil
Ectopia Lentis with Ectopia of Pupil (Ectopia Lentis et Pupillae)
General: Autosomal recessive.
Ocular: Lens and pupil displaced in opposite directions; bilateral cataracts; acute intermittent intraocular pressure crises; persistent pupillary membrane; poor pupillary dilation.
Clinical: None.
Colley A, et al. Ectopia lentis et pupillae: the genetics aspects and differential diagnosis. J Med Genet 1991; 28: 791-794.
Cruysberg JR, Pinckers A. Ectopia lentis et pupillae syndrome in three generations. Br J Ophthalmol 1995; 79: 135-138.
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: http://www.ncbi.nlm.nih.gov/omim/.
Townes PL. Ectopia lentis et pupillae. Arch Ophthalmol 1976; 94: 1126-1128.
General: Autosomal recessive.
Ocular: Lens and pupil displaced in opposite directions; bilateral cataracts; acute intermittent intraocular pressure crises; persistent pupillary membrane; poor pupillary dilation.
Clinical: None.
Colley A, et al. Ectopia lentis et pupillae: the genetics aspects and differential diagnosis. J Med Genet 1991; 28: 791-794.
Cruysberg JR, Pinckers A. Ectopia lentis et pupillae syndrome in three generations. Br J Ophthalmol 1995; 79: 135-138.
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: http://www.ncbi.nlm.nih.gov/omim/.
Townes PL. Ectopia lentis et pupillae. Arch Ophthalmol 1976; 94: 1126-1128.
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