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Diseases & Conditions: Anophthalmia and Microphthalmia

Overview

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.

Detection and Diagnosis

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.

Treatment

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.

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.

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