• Enlarged cornea
• Clouding of the lens of the eye (cataracts)
• Thin cornea
• Glaucoma
• Vibration of the iris
• Dislocated lens

Isolated congenital megalocornea is inherited in an X-linked recessive pattern. X-linked means that the gene for the condition is located on the X-chromosome, one of the sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene is enough to cause the condition. In females (who have two X chromosomes), an alteration needs to occur in both copies of the gene to cause the condition.

X-linked recessive conditions affect males much more frequently than females. Females, who have one altered gene, are called carriers. While most female carriers have no signs or symptoms of the condition, in rare cases, female carriers may experience some mild signs or symptoms.

A female who carries one X-linked gene alteration has a 50% or 1 in 2 chance of having a son with the condition and a 50% chance of having a daughter who is also a carrier. A male with an X-linked recessive condition cannot pass on the disorder to his sons, but all of his daughters will be carriers.

Sometimes a male child is the first person in a family with the condition. In this case, the gene alteration may have been inherited from the mother, or the alteration may have occurred by chance for the first time in the child (de novo).

• Ophthalmologist
• Medical geneticist