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Anophthalmia is a condition present at birth where one or both of the eyes is completely absent or extremely small. This disorder is often linked with microphthalmia, where one or both eyes is smaller than would be considered normal. Secondary anophthalmia is, essentially, extreme microphthalmia. True anophthalmia can only be diagnosed when there is a complete lack of ocular tissue. The deformation is fairly rare, and no known cause exists.
Blindness resulting from true anophthalmia has no known cure. Even visual prostheses that work for people who become blind later in life will not work for people born without one or both eyes because the optic nerve has not been properly developed. It is equally impossible to organically force the eye to grow. The only treatment options available for children born without eyes are primarily cosmetic, working to ensure a normal appearance and proper growth.
Children born with anophthalmia almost always require support in the eye socket to achieve normal growth of the face. Without anything in the eye socket, the face will take on a sunken appearance and the bones may not grow normally. Prostheses must be used in infancy and childhood because this is when the majority of growth takes place. It is typically recommended that treatment begin shortly after birth.
The device most commonly used to treat this condition in infants is called a conformer. It does not resemble an eye, but merely takes the shape of the eye socket and promotes growth. Using this device makes the orbit expand and opens the eyelid, which helps prepare the area for a painted prosthetic eye as well. Unlike adult prosthetic eyes, conformers have a stem attached that allows for easier removal. An ocularist can make exactly fitted conformers using wax, but most conformers are premade.
Among other difficulties posed by living in a seeing world, blindness resulting from this condition can cause learning disabilities later in life. Anophthalmia can also be part of a larger set of congenital disorders present in the same child. It is important that the child be examined closely for additional problems that might not be immediately obvious at birth. Lack of one or both eyes is not necessarily indicative of additional problems, but as it is a serious condition, additional tests are imperative.
While the condition is considered rare, there is no exact statistic on how often it occurs. One recent study claimed that one out of every 10,000 births in England presents this disorder to some degree. No cause has yet been identified, though the condition might be caused by genetic, environmental, or chromosomal factors.
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