What Is Anophthalmia, and How Is It Detected?

While rare, anophthalmia is a concern for all expecting parents. This birth defect affects the health of the eye, and how parents handle it can have lifelong consequences for a child. Learning how to detect anophthalmia can ensure you’re prepared to get the right care for your baby, like finding a professional ocularist. Here’s a basic guide to what anophthalmia is and how to detect anophthalmia.

What is anophthalmia?

While most babies are born with healthy eyes, some babies are born with anophthalmia, a rare birth defect of the eye that can cause vision problems or blindness. A baby with anophthalmia can be born without one or both eyes, and the condition affects about 1 in 5,300 babies born in the United States every year. This rare disorder develops during pregnancy, and is often accompanied by other birth defects. There are different types of anophthalmia, including:

  • True anophthalmia: A complete absence of eye tissues.
  • Extreme microphthalmia: A small portion of tissue is present in place of the eye.
  • Primary anophthalmia: There is no development of the eye; this is also called optic pit failure.
  • Secondary anophthalmia: The development of the eye began, but stopped during the process; this is also called an anterior neural tube defect.
  • Degenerative anophthalmia: The eye has begun to form, but experiences degenerative changes before birth.

What causes anophthalmia?

Anophthalmia is caused by genetic mutations or abnormal chromosomes. Specifically, mutations in the SOX2 gene are directly related to the development of anophthalmia. In some cases, an entire chromosome might be either absent or duplicated, leading to mutations related to other birth defects like corneal sclerosis, cataract, optic disc problems and facial dysmorphisms. While studies are ongoing, it’s also commonly believed that environmental factors—including exposure to pesticides, drugs, toxins, radiation, X-rays or viruses—can increase a baby’s risk of developing anophthalmia.

How is anophthalmia detected?

Anophthalmia is sometimes detected during pregnancy through prenatal tests. Ultrasound, genetic testing and computed tomography, or a CAT scan, check a baby for birth defects and can sometimes diagnose anophthalmia. Anophthalmia can also be detected after birth during a physical exam. As soon as this birth defect is detected, you need to develop a relationship with a professional ocularist and ophthalmologist, and possibly an oculoplastic surgeon, to assemble a team of experts to provide the early and regular care needed to treat this condition.

How is anophthalmia treated?

While there’s no treatment to bring back eyesight or create new natural eyes, early intervention can help a baby with anophthalmia in various ways. An ocularist can create a wearable device that helps the baby’s face grow and develop in an ideal way. In some cases, the baby will need surgery from an experience oculoplastic surgeon to create or lengthen eyelids or increase the size of the socket. The baby may also need surgery to give a conformer or artificial eye a better fit.

Learning how to detect anophthalmia can help you make proactive decisions for the health of your baby. Contact Hetzler Ocular Prosthetics Inc. to discover how an experienced ocularist can help you navigate this rare yet life-changing condition.