Macular corneal dystrophy, bilateral digital illustration

Macular corneal dystrophy, bilateral Save


ICD-10 code: H18.553

Disease category: None

Macular Corneal Dystrophy, Bilateral: Understanding the Condition

Macular corneal dystrophy is a rare genetic disorder that affects the cornea, the transparent front part of the eye. This condition is bilateral, meaning it affects both eyes. It is characterized by the progressive clouding of the cornea, leading to visual impairment.

Macular corneal dystrophy is typically inherited in an autosomal recessive manner, which means that both parents must carry the gene mutation for their child to develop the condition. This disorder is caused by mutations in the CHST6 gene, which is responsible for producing an enzyme necessary for the formation and maintenance of the cornea.

Signs and symptoms of macular corneal dystrophy usually appear in childhood or adolescence and worsen over time. Individuals with this condition may experience blurred vision, sensitivity to light, glare, and the gradual loss of visual acuity. As the condition progresses, the cornea becomes increasingly cloudy, leading to significant visual impairment.

Key features of macular corneal dystrophy, bilateral:

  1. Cloudy cornea: The most prominent symptom of this condition is the clouding of the cornea, which gradually worsens over time.
  2. Visual impairment: As the cornea becomes cloudier, individuals with macular corneal dystrophy experience a decline in visual acuity.
  3. Sensitivity to light: Many patients with this condition find bright lights uncomfortable and may experience glare.
  4. Slow progression: Macular corneal dystrophy tends to progress slowly, with vision gradually deteriorating over the years.

Diagnosing macular corneal dystrophy involves a comprehensive eye examination, including a visual acuity test, corneal evaluation, and genetic testing to confirm the presence of CHST6 gene mutations.

While there is currently no cure for macular corneal dystrophy, various treatment options can help manage the symptoms and improve visual function. These may include contact lenses, corneal transplantation, and other supportive measures. Consulting with an ophthalmologist who specializes in corneal disorders is crucial for appropriate management of this condition.

In conclusion, macular corneal dystrophy, bilateral, is a rare genetic disorder characterized by the progressive clouding of the cornea, resulting in visual impairment. Early diagnosis and appropriate management can significantly improve the quality of life for individuals affected by this condition.

Treatment of Macular corneal dystrophy, bilateral:

Treatment Options for Macular Corneal Dystrophy, Bilateral

Macular corneal dystrophy, bilateral is a rare inherited eye disorder that affects the cornea, leading to vision impairment. Although there is no known cure for this condition, there are several treatment options available to manage its symptoms and slow down its progression.

  1. Corneal Transplant:

    To see full information about treatment please Sign up or Log in