Congenital primary aphakia

Alternate names

Aphakia, congenital primary; CPA

Definition

Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing.

Cause

This condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. Mutations in the FOXE3 gene have been associated with this condition.

Inheritance

Autosomal recessive inheritance, a 25% chance

CPA is thought to be inherited in an autosomal recessive fashion.

Signs and symptoms

This condition is present at birth in which the lens is missing. In some cases, CPA can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera).

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Congenital aphakia
• Microphthalmia(Abnormally small eyeball)

30%-79% of people have these symptoms

• Abnormality of vision(Abnormality of sight)
• Retinal dysplasia
• Sclerocornea(Hardening of skin and connective tissue)

Treatment

• Aphakia can be corrected by wearing glasses, contact lenses, artificial lens implantation, or refractive corneal surgeries.
• Eye with artificial lenses are described as pseudophakic.

NIH genetic and rare disease info

• NIH info on Congenital primary aphakia

Congenital primary aphakia is a rare disease.

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