Anophthalmia and Microphthalmia (Small Eye Syndrome)

Anophthalmia is a congenital defect of the eye where either a single or both eyes are absent when a baby is born. Anophthalmia is sometimes confused with Microphthalmia, also called Small Eye Syndrome, which is a congenital defect where either a single or both eyes are underdeveloped and appear abnormally small.

What are the causes?

Research into congenital eye defects suggests these disorders are:

• Hereditary: passed on through genetic DNA structural mutations and irregular chromosomes.
• Environmental: resulting from toxins, chemicals, viral infections and exposure to radiation such as through X-rays.
• Idiopathic: no identifiable cause.

What disabilities are associated with Anophthalmia and Microphthalmia?

Both Anophthalmia and Microphthalmia cause visual impairment and can also result in learning difficulties, because the eyes are an extension of brain neural pathway formation. Abnormal behavioural patterns can also occur due to the damage caused during brain development. Early intervention is important to implement treatment and recovery for those born with such conditions, as they cannot only impact visual health but overall development and health.

How are Anophthalmia and Microphthalmia diagnosed?

Medical practitioners usually identify the conditions after birth when the baby is physically examined. In some cases ultrasound during pregnancy may indicate if one eye is absent. Pregnant mothers are usually advised by medical practitioners if Anophthalmia and Microphthalmia predispositions exist and given available care options.

How are Anophthalmia and Microphthalmia treated?

Whether or not treatment is successful for Microphthalmia depends on the severity of the condition. In Anophthalmia a single or both eyes may be absent, requiring extensive forms of surgery that may not provide full visual recovery. However, there are treatment options for both conditions and they may include:

• Orbital and oculoplastic surgery, both corrective and cosmetic.
• Prosthetic apparatus for the eye, including artificial eyes and facial structural supports.
• Patches or caps can be worn over the Microphthalmic eye to preserve sight in the normal eye.
• Patches can be worn over the normal eye to stimulate the Microphthalmic to function better.

Although such treatments are aimed at moulding the eye socket, the prosthetic devices will not restore lost vision. The aim is to enhance the facial structure and region of the eyes for a more normal appearance. Artificial eyes can be fashioned to look like normal eyes and are replaceable.

Can limited vision caused by Microphthalmia be restored?

Visual loss may not be recoverable, though a weakened eye due to Microphthalmia can be trained for improved vision by wearing an opaque patch over the healthy eye. This stimulates the Microphthalmic eye to increase in function for improved sight. Visual improvement is more likely to occur in cases of mild Microphthalmic disorder.

How prevalent is Anophthalmia and Microphthalmia?

Both Anophthalmia and Microphthalmia are rare congenital birth defects, arising due to either genetic or environmental factors or by an unknown cause. Anophthalmia affects about 1 in 100,000 babies born and Microphthalmia occurs in about 1 in 10,000 babies born. Research in genetics is hoped to provide insight into better prognosis and treatment in the future.