Congenital hereditary endothelial dystrophy
Congenital Hereditary Endothelial Dystrophy (kənˈjenɪtəl ˈherɪˌteri ˌenˌdoʊˈθiːliəl dɪsˈtrɒfi) is a rare, genetic disorder that primarily affects the cornea of the eye. The term is derived from the Latin congenitus meaning "born with", the Greek hereditarius meaning "inherited", endothelium referring to the thin layer of cells that lines the interior surface of blood vessels and lymphatic vessels, and dystrophy meaning "abnormal growth or development".
Overview
Congenital Hereditary Endothelial Dystrophy (CHED) is characterized by a cloudy cornea from birth or early infancy, which can lead to significant visual impairment. It is caused by mutations in the SLC4A11 gene and is inherited in an autosomal recessive manner.
Symptoms
The primary symptom of CHED is a cloudy cornea, which can lead to blurred vision. Other symptoms may include increased sensitivity to light (photophobia), excessive tearing (epiphora), and occasionally nystagmus, an involuntary eye movement.
Diagnosis
Diagnosis of CHED is typically made based on clinical examination of the eye. Genetic testing can confirm the diagnosis and identify the specific mutation in the SLC4A11 gene.
Treatment
Treatment for CHED is primarily surgical, with corneal transplantation being the most common procedure. Other treatments may include the use of contact lenses or glasses to improve vision.
See Also
External links
- Medical encyclopedia article on Congenital hereditary endothelial dystrophy
- Wikipedia's article - Congenital hereditary endothelial dystrophy
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