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National Eye Institute

Other Names
Anophthalmos and microphthalmos, small eye syndrome.

What are anophthalmia and microphthalmia?
Anophthalmia and microphthalmia are often used interchangeably. Microphthalmia is a disorder in which one or both eyes are abnormally small, while anophthalmia is the absence of one or both eyes. These rare disorders develop during pregnancy and can be associated with other birth defects.

What causes anophthalmia and microphthalmia?
Causes of these conditions may include genetic mutations and abnormal chromosomes. Researchers also believe that environmental factors, such as exposure to X-rays, chemicals, drugs, pesticides, toxins, radiation, or viruses, increase the risk of anophthalmia and microphthalmia, but research is not conclusive. Sometimes the cause in an individual patient cannot be determined.

Can anophthalmia and microphthalmia be treated?
There is no treatment for severe anophthalmia or microphthalmia that will create a new eye or restore vision. However, some less severe forms of microphthalmia may benefit from medical or surgical treatments. In almost all cases improvements to a child's appearance are possible. Children can be fitted for a prosthetic (artificial) eye for cosmetic purposes and to promote socket growth. A newborn with anophthalmia or microphthalmia will need to visit several eye care professionals, including those who specialize in pediatrics, vitreoretinal disease, orbital and oculoplastic surgery, ophthalmic genetics, and prosthetic devices for the eye. Each specialist can provide information and possible treatments resulting in the best care for the child and family. The specialist in prosthetic diseases for the eye will make conformers, plastic structures that help support the face and encourage the eye socket to grow. As the face develops, new conformers will need to be made. A child with anophthalmia may also need to use expanders in addition to conformers to further enlarge the eye socket. Once the face is fully developed, prosthetic eyes can be made and placed. Prosthetic eyes will not restore vision.

How do conformers and prosthetic eyes look?
A painted prosthesis that looks like a normal eye is usually fitted between ages one and two. Until then, clear conformers are used. When the conformers are in place the eye socket will look black. These conformers are not painted to look like a normal eye because they are changed too frequently. Every few weeks a child will progress to a larger size conformer until about two years of age. If a child needs to wear conformers after age two, the conformers will be painted like a regular prosthesis, giving the appearance of a normal but smaller eye. The average child will need three to four new painted prostheses before the age of 10.

How is microphthalmia managed if there is residual vision in the eye?
Children with microphthalmia may have some residual vision (limited sight). In these cases, the good eye can be patched to strengthen vision in the microphthalmic eye. A prosthesis can be made to cap the microphthalmic eye to help with cosmetic appearance, while preserving the remaining sight.

Resources
The following organizations may be able to provide additional information on anophthalmia and microphthalmia:

American Society of Ophthalmic Plastic and Reconstructive Surgery
1133 West Morse Boulevard #201
Winter Park, FL 32789
(407) 647-8839
http://www.asoprs.org
Represents ophthalmologists who specialize in reconstructive surgery involving the eye and surrounding structures. Provides information on anophthalmos and orbital implants, blepharospasm, ptosis and other eyelid disorders, excessive tearing, and thyroid disease and the eye.

International Children's Anophthalmia Network (ican)
5501 Old York Road
Genetics, Levy 2 West
Philadelphia, PA 19141
1-800-580-4226
(215) 456-8722
http://www.anophthalmia.org
Provides information on anophthalmia and microphthalmia. Coordinates a patient registry. Offers referrals to local resources. Coordinates gatherings for individuals with anophthalmia/microphthalmia and their families. Publishes a newsletter, The Conformer.
Additional resources for parents and teachers of children with visual impairments can be found on the National Eye Institute's website at http://www.nei.nih.gov/health/resourceSearch.asp.

For additional information, you may also wish to contact a local library.

Medical Literature
Below is a sample of the citations available through MEDLINE/PubMed, a service of the National Library of Medicine. MEDLINE/PubMed provides access to over 11 million medical literature citations from 1966 to the present and includes links to many sites providing full text articles and other related resources. You can conduct your own free literature search by accessing MEDLINE through the Internet at http://medlineplus.nlm.nih.gov/hinfo.html. You can also get assistance with a literature search at a local library.

To obtain copies of the article listed below, contact a local community, university, or medical library. If the library you visit does not have a copy of a desired article, you may usually obtain it through an inter-library loan.

Please keep in mind that articles in the medical literature are usually written in technical language. We encourage you to share any articles you order with a health care professional who can help you understand them.

The ocularists' management of congenital microphthalmos and anophthalmos. Dootz GL. Advanced Ophthalmic Plastic Reconstructive Surgery 1992; 9:41-56. 1992.
Early socket stimulation is crucial for management of congenital anophthalmos and microphthalmos among infants. Progressive sized hard conformers and lid expansion devices can expand the small socket in these patients. The ocularists' management of these two conditions is discussed and techniques are introduced.

The National Eye Institute (NEI), part of the National Institutes of Health (NIH), is the Federal government's principal agency for conducting and supporting vision research. Inclusion of an item in this Information Resource Guide does not imply the endorsement of the NEI or the NIH.