Macular corneal dystrophy Save

Understanding Macular Corneal Dystrophy

Macular Corneal Dystrophy (MCD) is a rare genetic disorder that affects the cornea, the transparent front part of the eye. The disease is characterized by the accumulation of a substance called keratan sulfate in the cornea, which leads to cloudiness and vision loss. MCD is a progressive disease, meaning it gets worse over time.

While MCD is a rare disease, it is more common in certain regions of the world, such as Saudi Arabia, where the prevalence is estimated to be as high as 1 in 2,000 individuals. MCD is also more common in certain populations, such as the Amish community in the United States.

Symptoms of Macular Corneal Dystrophy

The symptoms of MCD typically appear in childhood or early adulthood, although they can appear later in life. The most common symptom is cloudiness of the cornea, which can cause blurry vision and sensitivity to light. Other symptoms include:

1. Difficulty seeing in low light conditions
2. Eye pain or discomfort
3. Eye redness
4. Eye irritation or itching

In some cases, MCD can also lead to the development of a corneal ulcer, which can be painful and cause further vision loss.

Causes of Macular Corneal Dystrophy

MCD is caused by mutations in one of two genes, CHST6 or SLC4A11. These genes provide instructions for making proteins that are involved in the production and maintenance of the cornea. Mutations in these genes lead to the accumulation of keratan sulfate in the cornea, which causes the cloudiness and vision loss associated with MCD.

MCD is an autosomal recessive disorder, which means that a person must inherit two copies of the mutated gene (one from each parent) in order to develop the disease. If a person inherits only one copy of the mutated gene, they are a carrier of the disease but will not develop symptoms.

Diagnosis of Macular Corneal Dystrophy

MCD is typically diagnosed through a comprehensive eye exam, including a visual acuity test, a slit-lamp exam, and a corneal thickness measurement. Genetic testing can also be used to confirm a diagnosis of MCD.

If you or a loved one are experiencing symptoms of MCD, it is important to see an eye doctor as soon as possible. Early diagnosis and treatment can help to slow the progression of the disease and preserve vision.

Conclusion

Macular Corneal Dystrophy