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.
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
Extended Topic: What
happens after the baby is born...
Extended Topic: Learn more about the