Corneal Dystrophy, Hereditary Polymorphous Posterior (PCD)
Corneal Dystrophy, Hereditary Polymorphous Posterior (PCD)
General: Autosomal dominant.
Ocular: Clouding of posterior cornea; reduced number of endothelial cells; thickening and opacities of Descemet membrane; associated with keratoconus; iridocorneal adhesions; glassy membranes; pupillary ectropion (rare).
Clinical: None.
Driver PJ, et al. Familial cases of keratoconus associated with posterior polymorphous dystrophy. Am J Ophthalmol 1994; 118:256-257.
Laganowski HC, et al. Distinguishing features of the iridocorneal endothelial syndrome and posterior polymorphous dystrophy: value of endothelial specular microscopy. Br J Ophthalmol 1991; 75:212-216.
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/.
Rodrigues MM, et al. Posterior polymorphous corneal dystrophy: recent developments. Birth Defects 1982; 18: 479-491.
Sekundo W, et al. An ultrastructural investigation of an early manifestation of the posterior polymorphous dystrophy of the cornea. Ophthalmology 1994; 101:1422-1431.
General: Autosomal dominant.
Ocular: Clouding of posterior cornea; reduced number of endothelial cells; thickening and opacities of Descemet membrane; associated with keratoconus; iridocorneal adhesions; glassy membranes; pupillary ectropion (rare).
Clinical: None.
Driver PJ, et al. Familial cases of keratoconus associated with posterior polymorphous dystrophy. Am J Ophthalmol 1994; 118:256-257.
Laganowski HC, et al. Distinguishing features of the iridocorneal endothelial syndrome and posterior polymorphous dystrophy: value of endothelial specular microscopy. Br J Ophthalmol 1991; 75:212-216.
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/.
Rodrigues MM, et al. Posterior polymorphous corneal dystrophy: recent developments. Birth Defects 1982; 18: 479-491.
Sekundo W, et al. An ultrastructural investigation of an early manifestation of the posterior polymorphous dystrophy of the cornea. Ophthalmology 1994; 101:1422-1431.
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