Anophthalmia & Microphthalmia: Babies Born Missing One or Both Eyes

The stories of parents of children with anophthalmia or microphthalmia are very similar. Beautiful babies come into the world, appearing perfectly fine, but when doctors examine the child more closely, moving through protocol procedures like putting eye drops in the baby's eyes, it is realized that there is a problem. The baby has no eyes.

Anophthalmia and microphthalmia are extremely rare birth defects, which occur in .00003% of births worldwide. These diseases are extremely rare in which a person is born with a congenital absence of one or both eyes (anophthalmia) or a small eye (microphthalmia).

Anophthalmia, the rarer of the two, can be broken down into three classifications, primary, secondary, and degenerative. Primary anophthalmia is the complete absence of eye tissue due to a failure of the part of the brain that is responsible for forming the eye. Secondary anophthalmia is diagnosed when the initial development of the eye begins and abruptly stops, leaving only residual eye tissue or microscopic eyes. Degenerative anophthalmia happens when the eye begins forming, stops, and then degenerates, due to lack of blood supply to the eye and other reasons.

Microphthalmia is also known as the small eye disorder, where the axial length of the eye is a certain measurement under the average length per age. This condition, according to NCBI Bookshelf, also has three variations and depending on the classification and severity of microphthalmia there is a possibility that a child can recover, during the postnatal growth of the eye in the first few years.

Severe microphthalmia is when the globe is severely reduced in size with the diameter of the cornea being less than 4 millimeters at birth. Because the eye is so small severe microphthalmia is many times misdiagnosed as anophthalmia. Simple micropthalmia refers to an eye that is intact with the exception of a short axial length. Complex microphthalmia is when anterior or posterior segment dysgenesis occurs, creating a varying decrease in the axial length.

Though rare, anophthalmia and microphthalmia are responsible for 11% of blind children.

According to Orphanet, there are a variety of causes for these conditions, inheritable and environmental. Chromosomal duplications, deletions, and translocations along with monogenic mutations are often the causes of failed development of optical nerves and tissue. However there are also environmental factors, including vitamin A deficiency, exposure to X-rays, radiation, a variety of chemicals. Anophthalmia and microphthalmia can also be the consequence of Fetal Alcohol Syndrome.

Anophthalmia and microphthalmia develop in the early stages of pregnancy when the fetus does not develop necessary optic vesicles. Many prenatal tests can accurately detect the occurrence of these conditions, including 3-D and 4-D ultrasounds, which can identify complex malformations. Genetic counseling could also be useful to identify the risk of a child being born with anophthalmia and microphthalmia. NCBI states that specific cases can be identified, especially if there is the presence of a chromosomal abnormality or the autosomal recessive gene that can be inherited.

The National Eye Institute explains that there are no treatments that can construct a new eye or restore vision in severe cases. However, surgical options, such as orbital implants that extensively increase the postnatal growth of the orbit. Prosthetics are also used to expand the orbit.

Though anophthalmia and microphthalmia are extremely rare conditions that so many don't understand, there are many families dealing with the aspects of the condition. Microphthalmia Anophthalmia Parent SupportandInternational Children's Anophthalmia and Microphthalmia Networkboth provide support groups that help children and parents affected by anophthalmia and microphthalmia.