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Cyclopia - Types, Causes, Diagnosis, and Treatment

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A single eye, or a partially split eye that occupies a single orbit, is a congenital condition known as cyclopia. The article discusses the condition in detail.

Written by

Dr. Shikha

Medically reviewed by

Dr. Asha Juliet Barboza

Published At February 6, 2023
Reviewed AtMay 2, 2023

What Is Cyclopia?

The term cyclopia is derived from the Greek word cyclopes, which means "ring-eyed." When the brain's frontal lobe does not separate into the right and left hemispheres, an uncommon birth abnormality known as cyclopia develops. A single or incompletely split eye is the most visible sign of cyclopia. An infant with cyclopia typically lacks a nose, although occasionally, during gestation, a proboscis or a growth resembling a nose forms above the eye. A stillbirth or miscarriage is frequently the result of cyclopia. Most children only survive for a few hours after birth. Life cannot coexist with this situation. A baby's eye is not the only issue. Early in the pregnancy, the baby's brain also develops abnormally. About one in 100,000 neonates have cyclopia, commonly known as alobar holoprosencephaly. Animals can also contract a form of this illness.

What Are the Types of Cyclopia?

A collection of extremely rare conditions known as holoprosencephaly occurs when the brain's frontal region does not separate into the right and left hemispheres. Holoprosencephaly comes in four varieties:

  • Alobar Holoprosencephaly- When the brain does not separate into the right and left hemispheres.

  • Semi-lobar Holoprosencephaly- When the frontal and parietal or side lobes of the left hemisphere fuse with those of the right hemisphere, this condition is known as semi-lobar holoprosencephaly.

  • Lobar Holoprosencephaly- When the left and right ventricles develop, but the hemispheres are still connected, this condition is known as lobar holoprosencephaly.

  • Middle Interhemispheric Variant Holoprosencephaly- When the right and left hemispheres develop but remain united in the center.

What Causes Cyclopia?

some risk factors could raise the likelihood of cyclopia, even though its exact etiology is unknown.

Chromosomes: Defects in the DNA-containing chromosomes may be the cause of holoprosencephaly. Among these chromosomal abnormalities are:

  • Trisomy 18: The presence of an additional 18th chromosome may result in significant development abnormalities and psychomotor challenges.

  • Trisomy 13: A condition in which a newborn should only have two of the 13 chromosomes but instead has three, which is that they have three sets of the 13th chromosome.

  • Triploidy: Infants are born with an additional set of chromosomes in the cells. Humans generally have 23 sets of chromosomes, but, in this case, the number might triple to 69 or a triploid set.

Gene Alterations- Holoprosencephaly may occasionally result from a hereditary disorder. The genes and the proteins they encode may malfunction due to these defects. Holoprosencephaly can result from problems with brain development.

Gestational or Obstetric Diabetes- There is a relationship between uncontrolled gestational diabetes and neural tube abnormalities in an embryo. The brain and spinal cord develop inside this hollow tube. One of the main causes of disorder in the central nervous system is this trait.

Pregnancy-Related Infections- Certain infections during pregnancy may raise the possibility of holoprosencephaly development. The TORCH syndrome, which stands for Toxoplasmosis, Other Agents, Rubella, Cytomegalovirus, and Herpes Simplex, is one of these illnesses. Any of these substances can induce a variety of illnesses in infants, including fever, minor bleeding beneath the skin, and, most notably, holoprosencephaly.

Using Certain Medications When Pregnant- Cyclopia during pregnancy may be made more likely by specific medication kinds. They contain salicylates, such as Aspirin, retinoic acid, anticonvulsants, cancer prevention medications, reproductive aids, and hormones.

Consumption of Alcohol During Pregnancy- Alcohol usage during pregnancy is known to cause the birth abnormality of holoprosencephaly. The main component of alcohol, ethanol, is a recognized teratogen. A teratogen is a substance that can cause abnormalities in the developing embryo when exposed to the mother. When a pregnant woman is exposed to potentially harmful substances either inside or outside of her body, this is known as maternal exposure.

Consanguineous Unions- Sexual relationships between blood relatives are a significant risk factor for the occurrence of birth abnormalities in offspring. Holoprosencephaly may result from this marriage because it promotes autosomal recessive illnesses, which are conditions passed down through families. Cyclopia has been seen in children born from first-cousin marriages that were consanguineous.

How Is Cyclopia Diagnosed?

An ultrasound can be used to diagnose cyclopia. This test is conducted while the unborn child is still in the womb. The internal organs and the brain can also exhibit anomalies, which ultrasonography can detect. Uncertain images may prompt the doctor to request additional tests, even if the ultrasound may show indicators of abnormalities. A fetal MRI will produce images of the fetus and other internal organs using radio waves and magnetic fields. These might assist in supporting the diagnosis.

There are no hazards to the mother or the unborn child from using an MRI (magnetic resonance imaging) scan or ultrasound. The most useful test to determine whether cyclopia is present is sonography diagnosis. Such cases will go undiagnosed in nations where women do not receive regular antenatal care and do not undergo prenatal diagnostics. When a baby is born, cyclopia can be seen if it was not detected during ultrasonography while the baby was still in the womb.

What to Do When Cyclopia Is Diagnosed?

If significant congenital disabilities are found during pregnancy, medical law often makes it legal to end the pregnancy. It is prohibited in many nations for religious, cultural, and other reasons. Genetic counseling has been proven to assist parents in understanding the possibility involved in nations where termination of pregnancy under such circumstances is legal.

What Is the Life Expectancy of Infants Born With Cyclopia?

Cyclopia occurs in roughly one in every 250 embryos and one in every 100,000 live births, half of which are stillbirths, according to sources. Cyclopia-suffering newborns have a brief survival time. Cyclopia and the other types of holoprosencephaly do not have a standard treatment. Treatment usually focuses on treating the symptoms and giving life support.

Conclusion:

Cyclopia is a painful yet uncommon condition. Cyclopia could be a genetic characteristic. Parents of affected babies should warn close relatives who may be beginning families about their potential increased risk of developing cyclopia or other less severe types of holoprosencephaly. Genetic testing is advised for parents who are at higher risk. This might not give definitive answers, but having discussions about this with a genetic counselor can help.

Dr. Asha Juliet Barboza
Dr. Asha Juliet Barboza

Ophthalmology (Eye Care)

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