National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Corneal Dystrophies is not the name you expected.
- congenital hereditary endothelial corneal dystrophy
- epithelial basement membrane dystrophy
- fuchs endothelial corneal dystrophy
- Lisch corneal dystrophy
- granular corneal dystrophy type I
- granular corneal dystrophy type II (Avellino)
- lattice corneal dystrophy type I
- lattice corneal dystrophy type II
- macular corneal dystrophy
- Meesmann corneal dystrophy
- posterior polymorphous corneal dystrophy
- Reis-Buckler corneal dystrophy
- Schnyder crystalline corneal dystrophy
- Thiel-Behnke corneal dystrophy
Corneal dystrophies are a group of genetic, often progressive, eye disorders in which abnormal material often accumulates in the clear (transparent) outer layer of the eye (cornea). Corneal dystrophies may not cause symptoms (asymptomatic) in some individuals; in others they may cause significant vision impairment. The age of onset and specific symptoms vary among the different forms of corneal dystrophy. The disorders have some similar characteristics - most forms of corneal dystrophy affect both eyes (bilateral), progress slowly, do not affect other areas of the body, and tend to run in families. Most forms are inherited as autosomal dominant traits; a few are inherited as autosomal recessive traits.
An international classification of the corneal dystrophies has been developed that takes into account the chromosomal loci of the various corneal dystrophies as well as the responsible genes and their mutations. Traditionally, these disorders have classified based upon their clinical findings and the specific layer of the cornea affected. Advances in molecular genetics (e.g., identification of specific disease genes) have led to a greater understanding of these disorders.
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Eye Bank Association of America
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Washington, DC 20036
NIH/National Eye Institute
31 Center Dr
Bethesda, MD 20892-2510
Pediatric Keratoplasty Association
c/o Gerald Zaidman, M.D.
Westchester Medical Center
Department of Ophthalmology
Valhalla, NY 10595
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Boston Foundation for Sight
464 Hillside Ave.
Needham, MA 02494
Corneal Dystrophy Foundation
6066 McAbee Rd.
San Jose, CA 95120
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Last Updated: 6/30/2010
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