What is anophthalmia?

Anophthalmia is a medical term that is used to describe the absence of the globe and ocular (eye) tissue from the orbit. The terms Anophthalmia and Microphthalmia (small eyes) are often used interchangeably since CT scans or MRI show some remnants of either the globe or surrounding tissue in most cases. Anophthalmia/Microphthalmia (A/M) may affect one eye with the other eye being normal, or both eyes, resulting in blindness.

Anophthalmia is rare, but the exact incidence is unknown. One report from a prospective study of 50,000 newborns found an incidence of microphthalmia of 0.22 per 1,000 live births. In a recent study in England, the prevalence of anophthalmia and microphthalmia was 1.0 per 10,000 births.

Anophthalmia can be congenital (present at birth) or acquired later in life. Congenital anophthalmia can occur alone or along with other birth defects. Anophthalmia may result from inherited genetic mutations, sporadic genetic mutations, chromosome abnormalities, prenatal environmental insult or other unknown factors.

Extended Topic: Learn more about Genetic Issues with A/M...

What kind of Research and Treatment is Available?

A newborn with anophthalmia will need to see an ophthalmologist and ocularist immediately. The ocular orbits are very important in facial development. If the orbital globe is missing or too small the face will not grow properly. Conformers, which are plastic structures made by an ocularist, help support the growth of the eye socket and the bones in the face. As the child grows and the orbits and facial bones develop, the ocularist can make prosthetic eyes. Since each child is different, the age when the child is ready for a prosthetic eye varies. The ocularist works closely with the ophthalmologist and oculoplastic surgeon to make conformers and prosthetic eyes that are best for the child.

Children born with anophthalmia should be seen by a geneticist as soon as possible. The geneticist and genetic counselor can help the family coordinate the special care and early intervention the child may need. They will also discuss the possibility of this happening again in the family. Genetic tests may help make a diagnosis but it is important to realize that a normal chromosome test does not rule out a genetic cause. It only means the cause is unknown for the time being.

Researchers are currently working on locating the gene or genes involved with the developing eye. Finding these genes may lead to many answers about anophthalmia and enable genetic professionals to provide more accurate counseling and recurrence risks.

Extended Topic: What happens after the baby is born...
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