Corneal Dystrophy, Granular Type
Corneal Dystrophy, Granular Type (Groenouw Type I Corneal Dystrophy)
General: Autosomal dominant; hyaline degeneration with absence of acid mucopolysaccharide deposition; autosomal dominant with complete penetrance; evidence links it with chromosome 5q; Avellino dystrophy is a variant of granular corneal dystrophy with lattice changes.
Ocular: Grayish-white granules in a disk-shaped area of central cornea; hyaline material separates epithelium from Bowman membrane; keratoconus.
Clinical: None.
Eiberg H, et al. Assignment of granular corneal dystrophy Groenouw type I to chromosome 5q. Eur J Hum Genet 1994; 2:132-138.
Holland EJ, et al. Avellino corneal dystrophy. Clinical manifestations and natural history. Ophthalmology 1992; 99: 1564-1568.
Jones SF, Zimmerman LE. Histopathologic differentiation of granular macular and lattice dystrophies of cornea. Am J Ophthalmol 1961; 51:394-410.
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/.
Moller HU Granular corneal dystrophy Groenouw type I. Clinical and genetic aspects. Acta Ophthalmol Suppl 1991; 198:1-40.
General: Autosomal dominant; hyaline degeneration with absence of acid mucopolysaccharide deposition; autosomal dominant with complete penetrance; evidence links it with chromosome 5q; Avellino dystrophy is a variant of granular corneal dystrophy with lattice changes.
Ocular: Grayish-white granules in a disk-shaped area of central cornea; hyaline material separates epithelium from Bowman membrane; keratoconus.
Clinical: None.
Eiberg H, et al. Assignment of granular corneal dystrophy Groenouw type I to chromosome 5q. Eur J Hum Genet 1994; 2:132-138.
Holland EJ, et al. Avellino corneal dystrophy. Clinical manifestations and natural history. Ophthalmology 1992; 99: 1564-1568.
Jones SF, Zimmerman LE. Histopathologic differentiation of granular macular and lattice dystrophies of cornea. Am J Ophthalmol 1961; 51:394-410.
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/.
Moller HU Granular corneal dystrophy Groenouw type I. Clinical and genetic aspects. Acta Ophthalmol Suppl 1991; 198:1-40.
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