Health Encyclopedia



Corneal Dystrophies

National Organization for Rare Disorders, Inc.


It is possible that the main title of the report Corneal Dystrophies is not the name you expected.

Disorder Subdivisions

  • 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

General Discussion

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.


Lighthouse International

111 E 59th St

New York, NY 10022-1202

Tel: (800)829-0500



Eye Bank Association of America

1015 18th Street, NW

Suite 1010

Washington, DC 20036

Tel: (202)775-4999

Fax: (202)429-6036



NIH/National Eye Institute

31 Center Dr

MSC 2510

Bethesda, MD 20892-2510

United States

Tel: (301)496-5248

Fax: (301)402-1065



Pediatric Keratoplasty Association

c/o Gerald Zaidman, M.D.

Westchester Medical Center

Department of Ophthalmology

Valhalla, NY 10595

Tel: (914)493-1599

Fax: (914)493-7445



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223


Boston Foundation for Sight

464 Hillside Ave.

Suite 205

Needham, MA 02494

Tel: (781)726-7337

Fax: (781)726-7310



Corneal Dystrophy Foundation

6066 McAbee Rd.

San Jose, CA 95120


Fax: (408)490-2775

Tel: (866)807-8965



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site or email

Last Updated:  6/30/2010

Copyright  1988, 1989, 2002, 2010 National Organization for Rare Disorders, Inc.

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