Posterior polymorphous corneal dystrophy

Posterior Polymorphous Corneal Dystrophy (PPCD) is a rare genetic disorder that affects the cornea of the eye. It is characterized by changes in the innermost layer of the cornea, known as the endothelium. These changes can lead to a variety of symptoms, including blurred vision, glare, and in severe cases, loss of vision.

Symptoms and Signs

The symptoms of PPCD can vary greatly from person to person. Some individuals may have no symptoms at all, while others may experience significant vision problems. Common symptoms include:

• Blurred vision
• Glare
• Halos around lights
• Pain or discomfort in the eye
• Decreased visual acuity

Causes

PPCD is caused by mutations in the COL8A2 and ZEB1 genes. These genes are involved in the development and function of the cornea. Mutations in these genes can lead to the abnormal development of the cornea, resulting in the symptoms of PPCD.

Diagnosis

The diagnosis of PPCD is typically made based on a thorough eye examination, including a slit lamp examination. This examination allows the doctor to view the inner structures of the eye and identify any abnormalities. Genetic testing may also be performed to confirm the diagnosis.

Treatment

There is currently no cure for PPCD. Treatment is focused on managing the symptoms and preventing further damage to the cornea. This may include the use of eye drops to reduce inflammation and discomfort, or in severe cases, corneal transplantation may be necessary.

See Also

• Corneal dystrophy
• Genetic disorder
• Eye examination

References

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