Isolated congenital megalocornea

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Disease Overview

Isolated congenital megalocornea affects the cornea, the part of the eye that lets in light. The symptoms of isolated congenital megalocornea include mild nearsightedness, light sensitivity, and/or unusual vibration of the iris. At birth, the corneas are thin and enlarged. Cataracts may develop by 30-50 years of age. Other complications may include other cornea abnormalities, lens dislocation, and break down of the iris. Isolated congenital megalocornea occurs when the CHRDL1 gene is not working correctly. It is inherited in an X-linked recessive pattern. Diagnosis is made through a clinical examination and confirmed by DNA testing. Treatment is based on managing the symptoms and should include regular monitoring of eye health.[15645][15646][15647][15648]


Synonyms

  • Congenital anterior megalophthalmia
  • Megalocornea
  • MGC1
  • MGCN

For more information, visit GARD.

National Organization for Rare Disorders