Macular corneal dystrophy

Macular corneal dystrophy is a rare, genetic eye disorder that primarily affects the cornea, the clear front surface of the eye. This condition is characterized by the accumulation of abnormal deposits in the cornea, leading to progressive vision loss.

Etiology

Macular corneal dystrophy is caused by mutations in the CHST6 gene. This gene provides instructions for making an enzyme called corneal N-acetylglucosamine-6-sulfotransferase, which is involved in the production of keratan sulfate. Keratan sulfate is a type of complex sugar molecule that is part of the cornea's structure. Mutations in the CHST6 gene disrupt the normal production of keratan sulfate, leading to the accumulation of abnormal deposits in the cornea.

Symptoms

The primary symptom of macular corneal dystrophy is progressive vision loss, which usually begins in early childhood. Other symptoms may include photophobia (sensitivity to light), corneal erosion, and recurrent corneal ulcers. In some cases, the condition may also cause pain and discomfort in the eyes.

Diagnosis

Diagnosis of macular corneal dystrophy is typically based on a thorough eye examination, including a slit lamp examination and corneal pachymetry. Genetic testing may also be performed to confirm the diagnosis and identify the specific mutation in the CHST6 gene.

Treatment

There is currently no cure for macular corneal dystrophy. Treatment is primarily aimed at managing symptoms and may include the use of lubricating eye drops or ointments, and in severe cases, corneal transplantation may be considered.

Epidemiology

Macular corneal dystrophy is a rare condition, with an estimated prevalence of 1 in 100,000 individuals worldwide. It affects both males and females equally and has been reported in many different ethnic groups.

See also

• Corneal dystrophy
• Genetic disorder
• Eye disease

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