Ectopia Lentis with Ectopia of Pupil (Ectopia Lentis et Pupillae) &n 414i83e bsp; &n 414i83e bsp; &n 414i83e bsp; &n 414i83e bsp; &n 414i83e bsp; &n 414i83e bsp; &n 414i83e bsp; &n 414i83e bsp; &n 414i83e bsp; &n 414i83e bsp; &n 414i83e bsp; &n 414i83e bsp; &n 414i83e bsp; &n 414i83e bsp; 398
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-l38.
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/.
Townes PL. Ectopia lentis et pupillae. Arch Ophthalmol 1976; 94: 1126-l128.
Sylvester Disease [...] |
Hypertrichosis Cubiti (Hairy Elbow Syndrome) General: Auto [...] |
Hypoparathyroidism [...] |
Copyright © 2010 - 2024
: eSanatos.com - Reproducerea, chiar si partiala, a materialelor de pe acest site este interzisa!
Informatiile medicale au scop informativ si educational. Ele nu pot inlocui consultul medicului si nici diagnosticul stabilit in urma investigatiilor si analizelor medicale la un medic specialist.
Termeni si conditii - Confidentialitatea datelor - Contact
Despre diseases |
Alte sectiuni |
Ai o problema medicala? |