Anophthalmos and Microphthalmos

What is Anophthalmos and Microphthalmos?

What is Anophthalmos and Microphthalmos?

What is Anophthalmos and Microphthalmos?

Anophthalmia and microphthalmia develop during pregnancy and may occur in isolation, with other birth defects, or as part of a syndrome. Anophthalmia and microphthalmia often lead to blindness or visual impairment.

Causes and risk factors

The causes of anophthalmia and microphthalmia in most infants are unknown. Some children develop anophthalmos or microphthalmos due to changes in their genes or chromosomes. Anophthalmia and microphthalmia can also be caused by taking certain medications, such as isotretinoin or thalidomide, during pregnancy. These drugs can cause a number of birth defects, including anophthalmos or microphthalmos. These defects can also be caused by a combination of genes and other factors, such as things the mother comes into contact with in the environment, or what the mother eats or drinks, or certain medications she takes during pregnancy.

Diagnostics

Anophthalmos and microphthalmos can be diagnosed during pregnancy or after childbirth. During pregnancy, doctors can often detect anophthalmos and microphthalmos with an ultrasound or CT scan, and sometimes with certain genetic tests. After birth, a doctor can identify anophthalmos and microphthalmos by examining the baby. The doctor will also perform a thorough physical examination to check for other birth defects that may be present.

Traitement

For people with anophthalmos or microphthalmos, there is no treatment to create a new eye or restore full vision. A child born with one of these conditions should be examined by a team of ophthalmologists:

  • An ophthalmologist, a doctor specially trained in the treatment of the eyes.
  • Ocularist, a doctor specially trained in the manufacture and installation of prosthetic eyes
  • Oculoplastic surgeon, doctor specializing in eye and orbital surgery

The eye sockets are essential for the proper growth and development of a child's face. If a child has one of these conditions, the bones that make up the eye socket may not develop properly. Babies can be provided with a plastic structure called a conformer that can help the eye socket and bones develop properly. As children grow, these devices will need to be enlarged to help enlarge the eye socket. In addition, as children grow older, they can install an artificial eye.

The ophthalmological team should frequently monitor children with these conditions at an early age. If other conditions occur, such as cataracts or retinal detachment, children may need surgery to correct these other conditions. If anophthalmos or microphthalmos affects only one eye, the ophthalmologist can suggest ways to protect and preserve vision in the healthy eye. Depending on the severity of anophthalmia and microphthalmia, children may require surgery. It is important to speak with their eye care team to determine the best course of action.

Infants born with these conditions can often benefit from early intervention and therapy to support their development and mobility. 


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