Anophthalmia and microphthalmia

Anophthalmia and microphthalmia are eye conditions that occur from birth. For anophthalmia, the child is born without one or two eyes, while microphthalmia is when one or two eyes are small. These conditions are rare but can result in blindness or loss of vision.

No treatment can create new eyes or restore the vision of those born with microphthalmia or anophthalmia, but early intervention can help children and babies with these conditions develop.

What are the health problems affecting people with anophthalmia and microphthalmia?

Anophthalmia and microphthalmia can result in vision problems and blindness. These conditions may also occur with small eye sockets (the bones around the eye), altering the face shape.

Microphthalmia can occur with other eye conditions, such as:

• Cataract (a cloudy area in the eye’s lens)
• Coloboma (when normal tissues around and in the eye are missing)
• Microcornea (when the front of the eye’s outer layer is small and curved unusually)

People with anophthalmia or microphthalmia may have congenital disabilities that result in other health problems.

What are the causes of anophthalmia and microphthalmia?

In most cases, doctors aren’t certain about the cause of anophthalmia or microphthalmia. These conditions often occur from:

• Changes in genes

Anophthalmia or microphthalmia in some babies is due to changes in genes (genetic mutations). The changes may occur during pregnancy, before the baby’s birth. Genetic mutations may also result in other congenital disabilities.

• Taking certain medications during pregnancy

Some medications may cause anophthalmia or microphthalmia if taken during pregnancy. These medications include thalidomide (for treating some types of cancer and skin conditions) and isotretinoin (Accutane for treating severe acne).

• Contact with harmful environmental substances.

Exposure to harmful things in the environment may cause microphthalmia and anophthalmia. These may include chemicals, x-rays, pesticides, viruses and radiation.

Healthcare professionals believe that genes and other factors, such as harmful environmental substances combined, may also cause microphthalmia and anophthalmia.

How can I reduce my baby’s risk of having anophthalmia and microphthalmia?

Consult your doctor about minimising your baby’s risk of anophthalmia and microphthalmia. Consider doing the following:

• Get a checkup before pregnancy
• Talk to your doctor about your medicines
• Visit a genetic counsellor – an expert that understands genes
• Visit your doctor for regular prenatal care (care during pregnancy)
• Avoid harmful environmental factors and substances

How can I tell my baby has anophthalmia and microphthalmia?

Your doctor can diagnose anophthalmia and microphthalmia during pregnancy or after childbirth. The doctor can check for these conditions during pregnancy with the following tests.

• Ultrasound (a type of imaging that checks the body’s structure)
• Genetic tests (blood and other tissue tests to check for genetic disorders)
• CT scan (a type of x-ray)

 After your baby’s birth, your doctor can diagnose anophthalmia or microphthalmia through an exam.

Treatments for anophthalmia and microphthalmia

Treatments aren’t available to create a new eye or restore vision, but early treatment can help people with anophthalmia or microphthalmia. These include:

• Devices

Children and babies with anophthalmia and microphthalmia may require special devices known as conformers to help the eye socket develop and grow. They can also wear a prosthetic eye to check the appearance of their eye socket and help it grow.

• Protective eyewear

Babies with good vision in one eye can wear safety goggles or prescription eyeglasses to protect the eye from injury. Your doctor can recommend the right eye protection for your child.

• Patch

Babies with microphthalmia may still see in the smaller eye. In this case, wearing an eye patch on the other eye can help strengthen eyesight in the smaller eye by forcing the brain to use the eye to see.

• Surgery

Children with anophthalmia or microphthalmia may require surgery to enlarge the eye to fill out their sockets or make devices fit better. Surgery to treat other eye conditions like cataracts may be necessary.

Which doctor can help with anophthalmia and microphthalmia treatment?

Babies and children with anophthalmia or microphthalmia need a team of doctors. They include:

• Ophthalmologist – a doctor specialising in eye care and vision
• Ocularist – an expert in making and fitting prosthetic eyes
• Orbital and oculoplastic surgeon – a doctor specialising in surgery to shape areas in and around the eye

Talking to doctors involved in your child’s care is vital if you have a child with anophthalmia and microphthalmia. Early intervention and therapy are essential for babies with anophthalmia and microphthalmia.

You can visit Optimal Vision to consult eye care professionals if your child has anophthalmia and microphthalmia, or call 020 7183 3725 to schedule an appointment with our experienced doctors.