Are Genes Involved in Developing Microphthalmia?

An eye abnormality known to be microphthalmia arises before birth where one or both eyeballs are abnormally small. The eyeball can be completely missing in some affected individuals. There are cases where there is remaining eye tissue. People interchanged the definition of microphthalmia and anophthalmia. The thing is you will be able to distinguish anophthalmia because there is no formed eyeball at all. The worst-case scenario of having microphthalmia is it can result in significant vision loss.

There are cases where isolated microphthalmia can be inherited in an autosomal recessive pattern. It means that each cell has mutations in both copies of the gene. Some cases of parents with affected individuals have less severe eye abnormalities. Typically, the parents do not show signs and symptoms that they have the condition.

Microphthalmia is a feature of a genetic syndrome or chromosomal abnormality. Microphthalmia occurs in 1 in 10,000 individuals approximately. You can observe that there is only one affected individual in one family. Usually, microphthalmia is not inherited. Changes in genes involved in the early development of the eye may cause microphthalmia but it is not yet identified.

The research about how environmental factors can cause microphthalmia is not conclusive. Environmental factors such as not taking vitamins during pregnancy, radiation infections such as rubella, or teratogens, or exposure to substances that can cause birth defects can affect the early development of the baby.

Can People With Microphthalmia Have Coloboma?

newborn with eye problem

Coloboma appears as notches or gaps in the iris or the colored part of the eye. The normal tissue around the eye is missing when you have a condition called coloboma. Coloboma can affect one or both eyes. It can affect vision depending on the size and location.

People with microphthalmia can also have eye abnormalities such as coloboma, cataracts, and narrowed opening of the eye. They can also have an abnormality known as microcornea which makes the cornea small and abnormally curved. Syndromic microphthalmia affects other organs and tissues in the body while nonsyndromic or isolated means microphthalmia occurs by itself.

How to Manage Microphthalmia if There Is a Residual Vision

infant lying on bed

There are cases where children with microphthalmia have limited sight or some residual vision. The good eye will be patched to strengthen the vision in the microphthalmic eye. To help with the cosmetic appearance, a prosthesis will be made to cap the microphthalmic eye while preserving the remaining eyesight.

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