Anophthalmia: definition, symptoms, causes, treatment, etc.

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Definition

What is anophthalmia?

Anophthalmia is a birth defect in babies that affects the condition of your little one's eyes. Birth defects are structural changes in a baby at birth and can affect any part of the body.

Birth defects can affect the appearance of the baby's body, the function of the baby's organs, and both.

Even birth defects can cause problems in the health and the way the baby's body works as a whole.

Furthermore, anophthalmia is a condition when the baby does not have or is born without eyes, either only one or both.

Anophthalmia is a birth defect that can lead to vision problems and blindness.

How common is this condition?

Anophthalmia is a birth defect in babies that is classified as rare or rare. This one birth defect generally has started to develop since pregnancy and can occur alone, along with other birth defects, or be part of a certain syndrome.

Anophthalmia is a birth defect that can occur in 3 out of 1000 babies. However, with proper handling and control, babies with birth defects can be helped to continue living normally.

Signs & Symptoms

What are the signs and symptoms of anophthalmia?

The most visible signs and symptoms of anophthalmia when a newborn is an empty eye socket.

On the other hand, the eye socket size of a baby with anophthalmia may also be much smaller than normal.

The baby's tear glands and eye muscles are also usually invisible or absent. If babies with anophthalmia birth defects are not immediately given proper treatment and treatment, this can potentially cause problems in facial development.

When to see a doctor?

If you see that your baby has the signs, symptoms above, or other questions related to anophthalmia, you should consult your doctor immediately. The health condition of each person is different, including babies.

Always consult a doctor in order to get the best treatment regarding the health condition of your baby.

Cause

What causes anophthalmia?

Based on the Centers for Disease Control and Prevention (CDC), the cause of anophthalmia is not certain.

But so far, there are newborns who have anophthalmia because the genes and chromosomes in their bodies change or are not normal.

Changes in genes and krosomomes in the baby's body can become abnormalities that later affect the structure and function of the baby's body.

In fact, chromosomes may be translocated which causes them to move to other parts of the chromosome.

This chromosome displacement can develop other medical conditions such as cornea, cataracts, optic disc problems and mental retardation in infants.

In addition, other causes of anophthalmia can also be due to pregnant women taking certain types of drugs. Examples of these drugs such as isotretinoin (Accutane®) and thalidomide can lead to anophthalmic birth defect.

In addition, this one birth defect can also be caused by other factors related to pregnant women and the environment. So, it is important to pay attention to the various foods and drinks that pregnant women consume.

What are the types of anophthalmia?

Anophthalmia is a condition that can be distinguished by several types depending on its severity and cause.

Based on the level of severity

According to the amount of tissue in the eye and the severity of the anophthalmia, the classification of the condition is as follows:

• True anophthalmia or true anophthalmia, which is a condition when there is no eye tissue at all.
• Extreme microphthalmia or extreme microphthalmia, which is when there is little space for the eyeball but not the eye itself.
• Clinical anophthalmia or clinical anophthalmia, which is a condition between true anophthalmia and extreme microphthalmia.

Microphthalmia is a condition in which birth defects are similar to anophthalmia. However, if anophthalmia causes a baby to be born without one or both eyes, microphthalmia is a condition in which the development of one or both eyes of the baby is imperfect.

As a result, babies with microphthalmia birth defects have one or both eyes that are small. Both of these birth defects can cause vision problems and blindness in babies.

Based on the cause

Meanwhile, based on the cause, the classification of anophthalmia is as follows:

• Primary anophthalmia or primary anophthalmia, which is a condition when the eye does not develop properly (interference with the optic hole).
• Secondary anophthalmia or secondary anophthalmia, which is a condition when the eye develops but then stops suddenly (front tube nerve disorder).
• Degenerative anophthalmia or degenerative anophthalmia, which is a condition when a baby's eyes begin to form but then undergo changes.

Risk Factors

What increases the risk of developing anophthalmia?

Some of the factors that can increase the risk of a baby experiencing anophthalmia at birth are as follows:

• Pregnant women and give birth at old age, for example more than 40 years old
• Low birth weight (LBW)
• Pregnant mother and give birth to twins
• The mother gave birth to a premature baby
• The mother is exposed to radiation, including x-rays or X-rays, during pregnancy
• Pregnant women are exposed to certain pesticides and chemicals
• Pregnant women take certain types of drugs
• Pregnant women drink alcohol
• Pregnant women experience certain viral infections such as German measles, toxoplasmosis, varicella, and cytomegalovirus
• Mothers lack nutrition, for example vitamin A during pregnancy

It is better, if you are currently pregnant or planning a pregnancy, consult your doctor.

Find out how to increase the chances of a healthy baby in the womb and avoid birth defects.

Diagnosis & Treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are the usual tests to diagnose anophthalmia?

Anophthalmia is a birth defect that can be diagnosed during pregnancy and after the birth of a baby.

During pregnancy, doctors can help identify the possibility of anophthalmia through ultrasound examinations (USG) and CT-scans.

Sometimes, certain genetic tests can also help diagnose a baby's chances of developing anophthalmia. This genetic examination aims to determine the condition of the baby's genes and chromosomes.

Meanwhile, the way to diagnose anophthalmia when a baby is born is to pay attention to the empty eye socket.

The doctor will also do a thorough physical examination to see if there are other birth defects that the baby may have.

What are the treatment options for this condition?

According to the National Eye Institute (NIH), so far there is no anophthalmia treatment to produce new eyes or restore the baby's visual function.

However, doctors can help treat these birth defects in the following ways:

Supports the development of the baby's face

Doctors can treat anophthalmia by attaching a conformer or a special small plastic device to the baby.

This tool is responsible for helping the bones of the baby's eye socket and face grow and develop in a proper manner.

Providing care as early as possible is very important because the baby's face develops very quickly.

Without proper care, a baby's eye socket usually doesn't grow properly, affecting other parts of the face.

However, your little one should carry out regular checks with a doctor to check for the conformer's condition. As he gets older, doctors will usually readjust the size of the conformers.

As your little one gets older, the doctor may install an artificial eye.

Installation of artificial eyes

Generally, at the age of around 2 years or 24 months, the use of conformers that have been used since the baby is born will be replaced with prosthetic eyes.

This prosthetic eye has been designed to fit a normal eye. However, this prosthetic eye must also be replaced regularly and adapted to the growth of the baby's face as he gets older.

Even so, this deficiency of the prosthetic eye is unable to move so that it may not be possible to achieve a normal eye appearance completely.

Operation or surgery

Babies with severe anophthalmia usually need surgery. The operation aims to increase the size of the eye socket, make eyelids, or lengthen the eyelids.

Some babies sometimes need surgery or surgery to help place the artificial eye.

Early intervention services or early intervention services (EIS)

Babies with anophthalmia who have vision problems or are blind may need special services to help them learn and develop.

Providing early action can help support the development of the baby as it grows.

Not only that, this action will also help newborns around the age of 3 years or 36 months to learn a variety of important skills.

If you have any questions, consult your doctor for the best solution to your problem.