Corneal Dystrophy, Macular Type
Corneal Dystrophy, Macular Type (Groenouw Type II Corneal Dystrophy)
General: Autosomal recessive; onset in first decade, between 5 and 9 years; progressive; acid mucopolysaccharides found in corneal fibroblasts; it has been suggested that the defect may not be limited to the cornea.
Ocular: Minute gray, punctate opacities; reduced corneal sensitivity; photophobia; foreign body sensations; recurrent corneal erosions; keratoconus.
Clinical: Defect in metabolism of glycoprotein processing.
Klintworth GK, Smith CF. Macular corneal dystrophy: studies of sulfated glycosaminoglycans in corneal explant and confluent stromal cell cultures. Am J Pathol 1977; 89:167-182.
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/.
Merin S. Cornea: macular corneal dystrophy. In: Merin S, ed. Inherited eye diseases. New York: Marcel Dekker, 1991:29.
General: Autosomal recessive; onset in first decade, between 5 and 9 years; progressive; acid mucopolysaccharides found in corneal fibroblasts; it has been suggested that the defect may not be limited to the cornea.
Ocular: Minute gray, punctate opacities; reduced corneal sensitivity; photophobia; foreign body sensations; recurrent corneal erosions; keratoconus.
Clinical: Defect in metabolism of glycoprotein processing.
Klintworth GK, Smith CF. Macular corneal dystrophy: studies of sulfated glycosaminoglycans in corneal explant and confluent stromal cell cultures. Am J Pathol 1977; 89:167-182.
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/.
Merin S. Cornea: macular corneal dystrophy. In: Merin S, ed. Inherited eye diseases. New York: Marcel Dekker, 1991:29.
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