Cornea Plana
Cornea Plana
General: Autosomal dominant; may be inherited as autosomal dominant or recessive.
Ocular: Hyperopia; hazy corneal limbus; opacities in corneal parenchyma and marked arcus; posterior embryotoxon; iris and lens abnormalities.
Clinical: Associated with epidermolysis bullosa dystrophica.
Duane TD. Clinical Ophthalmology. Philadelphia: JB Lippincott, 1987.
Hemady RK, et al. Duplication of the lens, hourglass cornea, and cornea plana. Arch Ophthalmol 1993; 111:303,
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/.
Sharkey JA, et al. Cornea plana and sclerocornea in association with recessive epidermolysis bullosa dystrophica. Case report. Cornea 1992; 11:83-85.
General: Autosomal dominant; may be inherited as autosomal dominant or recessive.
Ocular: Hyperopia; hazy corneal limbus; opacities in corneal parenchyma and marked arcus; posterior embryotoxon; iris and lens abnormalities.
Clinical: Associated with epidermolysis bullosa dystrophica.
Duane TD. Clinical Ophthalmology. Philadelphia: JB Lippincott, 1987.
Hemady RK, et al. Duplication of the lens, hourglass cornea, and cornea plana. Arch Ophthalmol 1993; 111:303,
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/.
Sharkey JA, et al. Cornea plana and sclerocornea in association with recessive epidermolysis bullosa dystrophica. Case report. Cornea 1992; 11:83-85.
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