Yes, it is possible for a baby to be born without one eye, a condition called anophthalmia. This rare birth defect happens when the eye fails to develop during pregnancy. Anophthalmia affects around 3 in 100,000 births. Let’s explore this condition and its causes in more detail.
What is anophthalmia?
Anophthalmia simply means the absence of one or both eyes. When a baby is born without one eye, this is known as unilateral anophthalmia. When a baby is born without both eyes, this is called bilateral anophthalmia.
With anophthalmia, the eye/eyes do not form properly during fetal development in the womb. The complex structures of the eye like the retina, lens and optic nerve fail to develop normally. This results in a complete absence of ocular tissue in the eye socket.
Babies born with anophthalmia may have a small mass of tissue present in the eye socket. However, this tissue is disorganized and non-functional as an eye.
What causes anophthalmia?
The exact causes of anophthalmia are not fully understood. However, research suggests that a combination of genetic and environmental factors disrupt normal eye development in the womb, leading to this condition.
Known causes and risk factors for anophthalmia include:
- Genetic mutations – Mutations in genes like SOX2, OTX2 and PAX6 can interfere with eye development.
- Chromosomal abnormalities – Defects in chromosomes such as trisomy 13, 18 and triploidy are associated with anophthalmia.
- Maternal infections – Viral infections like rubella during early pregnancy increase the risk.
- Toxins and drugs – Alcohol, drugs like thalidomide and exposures to chemicals like solvents are risk factors.
- Poor maternal nutrition – Lack of nutrients like vitamin A in the mother’s diet may play a role.
- Advanced parental age – Older parents have a higher chance of contributing abnormal genes.
- Diabetes – Poorly controlled maternal diabetes can increase the risk.
In many cases, a combination of genetic susceptibilities triggered by environmental influences leads to disruption of eye development in the embryo.
Signs and symptoms
The main sign of unilateral anophthalmia is simply the absence of one eye. Instead of an eye, the child will have an underdeveloped eye socket with possibly some residual tissue.
Other symptoms and signs may include:
- Smaller than normal eye socket
- Eyelid abnormalities
- Lack of an eyeball structure
- Disorganized or absent eye muscles
- Absent optic nerve
- Little to no vision on the affected side
In bilateral anophthalmia where both eyes are absent, the child will have underformed eye sockets and no vision.
Associated conditions
Babies with anophthalmia often have related abnormalities in other parts of the body, including:
- Microcephaly – Small head size
- Developmental delays
- Cleft lip and palate
- Extra fingers or toes
- Genital abnormalities
- Heart defects
- Central nervous system problems
- Kidney issues
This is because similar fetal developmental processes affect the formation of eyes, brain, face, limbs and other structures. Disruptions can lead to wide-ranging effects.
Diagnosis
Anophthalmia is visually apparent and diagnosed shortly after birth. Doctors will carry out a clinical examination to confirm:
- Complete absence of eye tissue in the affected socket
- Small or malformed eyelids
- Any other related abnormalities like cleft lip
The following tests may be done to determine the extent of the condition:
- MRI or CT scan – To visualize and confirm absence of internal eye structures
- Genetic testing – To identify any chromosomal anomalies or mutated genes
- Hearing and vision tests – To assess sensory function
- Developmental assessment – To check for delays in growth and cognition
Prenatal diagnosis via ultrasound may be possible if anophthalmia is detected during pregnancy. However, it is often missed before birth and diagnosed after delivery.
Treatment
Unfortunately, there is no way to restore vision or develop a new eye for babies born with anophthalmia. Treatments aim to optimize appearance and help the child adapt.
Treatment may involve:
- Prosthetic eye – A customized artificial eye is fitted in the eye socket. It promotes natural facial growth and enhances appearance.
- Eyelid surgery – Surgery to reconstruct a more normal eyelid appearance.
- Vision rehabilitation – Supporting the use of remaining vision in the healthy eye.
- Educational support – Providing special education accommodations and learning aids.
- Psychological counseling – To promote self-esteem and confidence.
Ongoing care focuses on treating any related medical problems like heart defects or developmental issues. Providing early intervention improves outcomes.
Prognosis
The prognosis for babies born with unilateral anophthalmia is generally better compared to bilateral anophthalmia. Preservation of vision in one eye enables functional sight. With prosthetics and vision therapy, children can adapt well.
However, babies with bilateral anophthalmia are completely blind. This carries a poorer prognosis, with higher risks of developmental delays. Supportive care and special education can still enable an acceptable quality of life.
The outlook also depends on the presence of any associated anomalies. Severe defects in vital organs and cognition may reduce life expectancy. But isolated anophthalmia has a good prognosis with proactive management.
Prevention
While the causes are not fully preventable, the risk of anophthalmia may be reduced by:
- Prenatal screening and monitoring for pregnant women
- Treating maternal infections and diabetes before pregnancy
- Avoiding alcohol, drugs and toxic exposures during pregnancy
- Taking folic acid and supplements as recommended
- Managing chronic illnesses prior to conception
- Considering IVF with pre-implantation genetic diagnosis for high-risk parents
However, even with excellent prenatal care, anophthalmia can still occur due to random genetic mutations. Early diagnosis allows parents to prepare for the baby’s condition after birth.
Coping and support
Being born without an eye is a traumatic event for parents. Joining a support group helps parents process emotions and find hope. Connecting with other affected families provides a sense of community.
Advocacy groups like the Anophthalmia-Microphthalmia Network offer useful resources for parents. They provide information on latest treatments, educational aids, prosthetic devices and coping strategies.
With early intervention services and assistive devices, children with anophthalmia can lead fulfilling lives. Being visually impaired does not prevent one from reaching their potential with family support.
Key takeaways
- Anophthalmia is a rare disorder where a baby is born without one or both eyes due to disrupted fetal development.
- Genetic mutations, infections, drugs and toxins can interfere with normal formation of ocular structures.
- Affected babies have small, malformed eye sockets and associated problems like microcephaly.
- Diagnosis is made at birth via clinical exam and imaging tests.
- Treatment involves prosthetics, surgery and support services to optimize function.
- Prognosis is generally positive with unilateral anophthalmia and early rehabilitation.
- Parents can help their child adapt by providing love, resources and encouragement.
Frequently asked questions
Can missing an eye be detected before birth?
Sometimes anophthalmia may be detected on prenatal ultrasounds during pregnancy. However, it is often missed during routine scans. High-resolution 3D ultrasound improves chances of diagnosis if performed by an expert technician.
Does anophthalmia affect intelligence?
Isolated anophthalmia does not directly affect intelligence. However, babies with anophthalmia have higher chances of related developmental delays. Early intervention with therapies can help support normal cognition and learning.
Can you put a prosthetic eye on a baby?
Yes, specially designed prosthetic eyes can be fitted in infants as young as 2 months old. However, the prosthesis may need to be changed frequently as the socket grows. The goal is to promote normal facial growth and eye lid formation.
Do people with one eye have depth perception?
People with one functional eye do lose binocular depth perception or stereopsis. However, they can still perceive relative distance and spatial relationships using monocular cues like object size, overlapping, light and motion.
How common are eye birth defects?
Congenital eye defects affect around 4 in 10,000 births. Anophthalmia and microphthalmia account for around 30% of major eye abnormalities present at birth. Other defects include coloboma, cataracts, optic nerve hypoplasia etc.
Conclusion
Anophthalmia is a challenging but manageable eye disorder for affected children and families. With compassion, resources and support, children born with one eye can still live full lives. Advancements in prosthetics, surgery and vision rehabilitation continue to improve outlook for this rare condition.
