Microphthalmia: Abnormally Small Eyes and Anophthalmia: Absence of One or Both Eyes

Anophthalmia and microphthalmia are the two terms used interchangeably. It is important to know the definitions of the two terms, especially when to use them. Microphthalmia is a disorder where one or both eyes are abnormally small, while anophthalmia is the absence of one or both eyes. There are cases of anophthalmia that have remaining eye tissue even without an eyeball. Microphthalmia can be described as nonsyndromic or isolated.

Microphthalmia and anophthalmia are rare disorders that develop during pregnancy and are usually associated with other birth defects. Severe microphthalmia can be distinguished from anophthalmia because you can see no eyeball forms at all. There are instances where microphthalmia results in significant vision loss. People who have microphthalmia can also have a condition known as coloboma and other eye abnormalities such as cataracts and narrowed palpebral fissure.

closeup of newborn with microphthalmia

Causes of Anophthalmia and Microphthalmia

There are different causes for these conditions which include genetic mutations and abnormal chromosomes. Some researchers believe that environmental factors including exposure to X-rays, chemicals, drugs, pesticides, toxins, radiation, or viruses play a role in increasing the risk of developing anophthalmia and microphthalmia. The research is not proven to be convincing enough.

There are times where the cause in an individual patient cannot be determined. Usually, the cause of anophthalmia and microphthalmia in infants is unknown. Some of the babies have anophthalmia or microphthalmia because a change in genes or chromosomes has occurred.

newborn with microphthalmia

Treatment for Anophthalmia and Microphthalmia

If you are wondering if you can have a new eye or restored vision, there is no available treatment for severe anophthalmia or microphthalmia. If you have a less severe form of microphthalmia, you may benefit from medical or surgical treatments. Usually, it is possible to improve the child’s appearance. A child can be fitted for an artificial eye or prosthetic to promote socket growth and cosmetic purposes.

If you have a newborn suffering from anophthalmia or microphthalmia, make sure to visit eye care professionals especially those who specialize in pediatrics, orbital and oculoplastic surgery, prosthetic devices for the eye, and vitreoretinal disease. A specialist can give you information and treatments that are appropriate and best for the child. A specialist in prosthetics can make conformers and plastic structures that can support the face.

A prosthetic eye can be placed once the face has fully developed. Do not get your hopes up because a prosthetic eye will not restore vision. A painted prosthesis is usually fitted between age one and two and it looks like a normal eye. A child may need three to four painted prostheses before he or she reaches the age of 10.

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