Baby Microphthalmia (A developmental disorder of the eye)

Microphthalmia

Microphthalmia (Greek: μικρός micros = small; ὀφθαλμός ophthalmos = eye), also referred as microphthalmos, is a developmental disorder of the eye in which one (unilateral microphthalmia) or both (bilateral microphthalmia) eyes are abnormally small and have anatomic malformations. It is different from nanophthalmos in which the eye is small in size but has no anatomical alterations

Microphthalmia is a rare condition that is associated with chromosomal disease, genetic syndromes and also intracranial abnormalities. When a baby is growing in the womb sometimes not all the parts of the baby grow fully. If an eye (ophthalmia) does not grow to its full size and is smaller (micro) than it should be this is known as Microphthalmia. If the eye does not grow at all then this is known as Anophthalmia.

How does it occur:

Most cases of microphthalmia occur by chance although some cases are known to run in families. Very rarely an infection in the womb can lead to microphthalmia. It can often be seen along with other eye conditions. There is no good evidence that microphthalmia is caused by prescription or recreational drugs.

The causes of  microphthalmia among most infants are unknown. Some babies have microphthalmia because of a change in their genes or chromosomes. Microphthalmia can also be caused by taking certain medicines, like isotretinoin (Accutane®) or thalidomide, during pregnancy. These medicines can lead to a pattern of birth defects, which can include microphthalmia. These defects might also be caused by a combination of genes and other factors, such as the things the mother comes in contact with in the environment or what the mother eats or drinks, or certain medicines she uses during pregnancy.

Diagnosis:

Microphthalmia can either be diagnosed during pregnancy or after birth. During pregnancy, doctors can often identify microphthalmia through an ultrasound or a CT scan (special x-ray test) and sometimes with certain genetic testing. After birth, a doctor can identify microphthalmia by examining the baby. A doctor will also perform a thorough physical exam to look for any other birth defects that may be present.

It also can be diagnosed in the eye clinic during an examination by an ophthalmologist. The eye can be measured. This is often done using an ultrasound scan. If it is smaller than normal then microphthalmia is diagnosed.

Effects on child’s vision:

·         Most young children will feel their vision to be 'normal' as they have never known anything else but their own visual world. At first they assume that everyone else has vision the same as their own. They do not realise that other people see things differently.

·         Microphthalmia can affect vision in different ways. If the eye is only slightly smaller than the normal then the child may have normal vision.

·          If both eyes have almost completely failed to grow properly then the child may be more severely visually impaired.

·          They may only see bright lights and large shapes.

·         Raised pressure in the eye (Glaucoma)

• A cloudy lens (Cataract)
• Poor vision because the retina is not working properly

Treatments:

There is no treatment available that will create a new eye or that will restore complete vision for those affected by anophthalmia or microphthalmia. A baby born with one of these conditions should be seen by a team of special eye doctors:

·         An ophthalmologist, a doctor specially trained to care for eyes

·         An ocularist, a healthcare provider who is specially trained in making and fitting prosthetic eyes

·         An oculoplastic surgeon, a doctor who specializes in surgery for the eye and eye socket