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Corneal Dystrophies

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Gordon K. Klintworth, MD, PhD, Professor of Pathology and Joseph A.C. Wadsworth Research Professor of Ophthalmology, Duke University Medical Center, for assistance in the preparation of this report.

Synonyms of Corneal Dystrophies

  • No synonyms found.

Disorder Subdivisions

  • congenital hereditary endothelial corneal dystrophy
  • epithelial basement membrane dystrophy
  • fuchs endothelial corneal dystrophy
  • granular corneal dystrophy type I
  • granular corneal dystrophy type II (Avellino)
  • lattice corneal dystrophy type I
  • lattice corneal dystrophy type II
  • Lisch corneal dystrophy
  • 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.

Organizations related to Corneal Dystrophies

Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

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