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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