Congenital hereditary endothelial dystrophy
(Redirected from Congenital endothelial dystrophy type 2)
Congenital Hereditary Endothelial Dystrophy (CHED) is a rare genetic disorder that primarily affects the cornea. It is characterized by a cloudy cornea present at birth or shortly thereafter, and can lead to significant visual impairment.
Symptoms[edit | edit source]
The primary symptom of CHED is a cloudy cornea, which can lead to blurred vision or even blindness. Other symptoms may include nystagmus (involuntary eye movement), photophobia (sensitivity to light), and epiphora (excessive tearing).
Causes[edit | edit source]
CHED is caused by mutations in the SLC4A11 gene. This gene provides instructions for making a protein that is found in the cornea, where it plays a role in maintaining the cornea's transparency and thickness. Mutations in the SLC4A11 gene disrupt the function of this protein, leading to the corneal abnormalities seen in CHED.
Diagnosis[edit | edit source]
Diagnosis of CHED is based on the clinical features, including the characteristic cloudy cornea. Genetic testing can confirm the diagnosis by identifying a mutation in the SLC4A11 gene.
Treatment[edit | edit source]
Treatment for CHED is primarily surgical, with corneal transplantation being the most common procedure. This can significantly improve vision in individuals with CHED.
See also[edit | edit source]
References[edit | edit source]
Congenital hereditary endothelial dystrophy Resources | ||
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