Mikroftalmus

Mikroftalmus
Ilustrasi mikroftalmus. Credit: Freepik.

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Definition

Microphthalmos or microphthalmia is a congenital eye defect where one or both eyeballs do not develop properly, resulting in smaller eyeballs. In some cases, the eyeball may appear completely absent, though other eye tissues are generally still present. Microphthalmia can cause vision problems or even blindness.

Microphthalmia can occur solitarily, alongside other congenital abnormalities, or as part of a syndrome (a collection of symptoms). If it is not accompanied by other abnormalities, it is considered non-syndromic or isolated microphthalmia.

Microphthalmia affects approximately 1 in 10,000 people. About 30-50% of cases are part of a syndrome affecting other organs. In the United States, around 1 in 5,200 newborns are affected by microphthalmia.

 

Causes

The cause of microphthalmia is thought to be related to gene mutations that affect early eye development. While many specific gene disorders remain unidentified, this condition can also result from chromosomal abnormalities that influence genes during pregnancy.

Isolated microphthalmia can sometimes follow an autosomal recessive inheritance pattern, where each parent carries one copy of the mutated gene without showing symptoms. However, microphthalmia often appears sporadically without a clear inheritance pattern, affecting only one individual in the family.

 

Risk Factor

In addition to gene mutations, microphthalmia is linked to various environmental factors influencing fetal development. These factors include vitamin deficiencies during pregnancy, radiation exposure, infectious diseases such as Rubella, and teratogens (substances causing birth defects) found in food, drugs, chemicals, and pesticides.

Certain medications taken during pregnancy, such as Thalidomide (for cancer and skin disorders) and Retinoid acne drugs like Isotretinoin, can also induce genetic disorders. Therefore, pregnant women should avoid these drugs.

 

Symptoms

Microphthalmia can cause vision problems or blindness and results in smaller eye sockets, affecting facial shape.

Individuals with microphthalmia may have other eye disorders, such as coloboma, where part of the eye tissue does not form. Colobomas can occur in the pigment layer, iris, retina, choroid, or optic nerve and can affect one or both eyes, impacting vision based on their size and location.

Additional issues include cataracts (clouding of the eye lens), narrow eyelid openings, and microcornea (a small corneal layer with abnormal curvature).

 

Diagnosis

Microphthalmia can be diagnosed during pregnancy or after birth. During pregnancy, diagnosis is possible through ultrasound, CT scan, or genetic testing. After birth, doctors identify microphthalmia through physical examination of the baby and assess for other congenital abnormalities.

 

Management

Currently, no treatment can create new eyes or restore complete vision for microphthalmus patients. However, newborns with microphthalmus should be treated by an ophthalmologist as early intervention can significantly benefit their growth and development.

The following treatments are typically administered to microphthalmic babies:

  • Conformers

Eye sockets play a crucial role in the growth and development of a baby's face. In cases of microphthalmus, the bones forming the eye socket may develop imperfectly. A plastic device called a conformer can be placed in the baby's eye to help the surrounding bones grow properly. As the baby grows, the conformer is adjusted to match the size of the eye socket. For older children, artificial eyes can be fitted.

  • Protective glasses

Babies born with vision in only one eye require special glasses to protect the functional eye from injury. A pediatrician can recommend the appropriate type of eye protection.

  • Blindfold

Children with microphthalmus may retain some vision in their smaller eye. By placing a patch on the unaffected eye, the vision in the smaller eye can be strengthened through forced use and refraction.

  • Surgery

Children with microphthalmus may require surgery to enlarge the eye socket, adjust the fit of devices within the eye socket, or address other eye problems such as cataracts or retinal detachment.

Ophthalmologists will routinely monitor the progress of microphthalmus patients from an early age. If microphthalmus affects only one eye, the eye doctor will provide advice on maintaining and preserving vision in the healthy eye.

 

Complications

If not treated promptly, microphthalmia can lead to complications such as:

  • Visual impairment
  • Blindness

 

Prevention

Preventive measures should start during pregnancy planning or early pregnancy stages. To prevent microphthalmia, mothers can:

  • Undergo pre-pregnancy health checks
  • Consult doctors about safe medications during pregnancy
  • Seek advice from geneticists
  • Avoid environmental risk factors harmful to the baby

 

When to See a Doctor?

Consult a doctor if you notice that your newborn has one or both eyes smaller than normal. Ideally, seek medical advice during the pre-pregnancy period to ensure a healthy pregnancy and baby.

 

Looking for more information about other diseases? Click here!

 

Writer : dr Aprilia Dwi Iriani
Editor :
  • dr Ayu Munawaroh, MKK
Last Updated : Minggu, 2 Februari 2025 | 14:07

Facts about Anophthalmia / Microphthalmia | CDC. Centers for Disease Control and Prevention. (2021). Retrieved 14 November 2021, from https://www.cdc.gov/ncbddd/birthdefects/anophthalmia-microphthalmia.html

Microphthalmia: MedlinePlus Genetics. Medlineplus.gov. (2021). Retrieved 10 November 2021, from https://medlineplus.gov/genetics/condition/microphthalmia/

 

Anophthalmia and Microphthalmia | National Eye Institute. Nei.nih.gov. (2021). Retrieved 14 November 2021, from https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/anophthalmia-and-microphthalmia