Corneal dystrophy, granular type (groenouw type i corneal dystrophy) 297

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-l38.

Holland EJ, et al. Avellino corneal dystrophy. Clinical manifestations and natural history. Ophthalmology 1992; 99: 1564-l568.

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: https://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.