Macular Dystrophy: Understanding and Managing a Progressive Eye Condition

 Introduction 

Macular dystrophy is a rare, inherited corneal disorder characterized by the formation of small, raised, and/or pigmented lesions on the cornea known as "macular" lesions. These lesions can cause a variety of visual symptoms and can lead to serious vision problems if left untreated. In this article, we will discuss the causes, symptoms, and management of macular dystrophy.

Causes 

Macular dystrophy is caused by mutations in the TGFBI gene. This gene provides instructions for making a protein called keratoepithelin, which is essential for the normal development and maintenance of the cornea. When the TGFBI gene is mutated, the keratoepithelin protein is abnormal and can form macular lesions on the cornea. There are several subtypes of macular dystrophy, each caused by different mutations in the TGFBI gene.

Symptoms 

Symptoms of macular dystrophy can include:

  • The appearance of small, raised, and/or pigmented macular lesions on the cornea
  • Cloudy or hazy vision
  • Blurred vision
  • Sensitivity to light
  • The feeling of a foreign body in the eye
  • Redness or irritation of the eye
  • The feeling of a "gritty" sensation in the eye
  • Episodes of severe eye pain
  • Progressive vision loss

Diagnosis 

Macular dystrophy is typically diagnosed based on the appearance of the characteristic macular lesions on the cornea and a physical examination of the eye. Your doctor may use a microscope to examine the cornea and may also use a variety of other diagnostic tools

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