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Anophthalmia

and

Microphthalmia

What is Anophthalmia?

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

Anophthalmia is very 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.

Anophthalmia can be congenital (present at birth) or aquired later in life. Congenital anophthalmia can occur alone or along with other birth defects. Cases of anophthalmia may result from inherited genetic mutations, sporadic genetic mutations, chromosomal abnormalities, prenatal environmental insult or other potentially unknown causes.

What kinds 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 councelor can help the family coordinate the special care and early intervention the child will need. They will also discuss the possibility of this happening again in your 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.

Reasearchers 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 geneticists to provide more accurate counseling and recurrence risks.

Where can we get support and more information?

ICAN (International children's anophthalmia network) is a family run support group for individuals with anophthalmia and their families. The support group puts out a newsletter 3-4 times a year, provides referrals for local resources, and has a telephone helpline and has family gatherings.

Albert Einstein Medical Center (AEMC) in Philadelphia works together with ican and has a registry of individuals with anophthalmia/microphthalmia from all over the world. This registry is compiling information on pregnancy histories, maternal medical histories, family histories as well as environmental exposures. The goal is to determine a more accurate incidence of anophthalmia and to better identify all the syndromes that include anophthalmia. This registry can be a wealth of information for individuals with anophthalmia, their families and health care providers.

For additional information:
contact
ican
1-800-580-ican
ican web page at
www.ioi.com/ican
e-mail
aemcgenetics@icdc.com

Useful Phone Numbers

ican: 1-800-580-ican

A/M Registry: (215)456-8722

WWW site: www.ioi.com/ican

American Society of Ophthalmic Plastic and reconstruvtive Surgery (ASOPS):
1-888-427-6777

American Society of Ocularists (ASO): (405)399-0747

National Society of Genetic Counselors(NSGC): (610)872-7608

American College of Medical Genetics (ACMG): (301)571-1825

 

To write to ican
c/o Genetics, Levy 2 West
Albert Einstein Medical Center
5501 Old York Road
Philadelphia, PA 19141

 

Partial funding provided by the Mid-Atlantic
Regional Human Genetics Network. This Proect
was supported in part by Grant No.
MCJ-421010,
from the Maternal and Child Health Program
(Title V, Social Security Act) Human Resourses
and Services Administration, Department of Health
and Human Services.

 

Partial funding provided by The Albert Einstein Society
Albert Einstein Healthcare Network.

 

Designed and compiled by
Tanya M. Bardakjian

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