When your little one first came into the world, did you notice anything strange or different about his or her little eyes? Sometimes, although very rarely, babies are born with the colored part of the eye, the iris, which some call the "black ring", completely or partially missing. In medicine, we call this condition (Aniridia) . Hearing this name can be a bit scary, but don't worry. The most important thing is to be well informed about this. Let's talk about it all clearly today.
What exactly is Aniridia? Simply put...
Simply put, Aniridia is a condition in which a baby is born with a partial or complete absence of the colored part of their eyes, the iris. Some babies have no iris at all. Others may have only a small part of the iris in both eyes.
The important thing is that this condition (Aniridia) always affects both eyes of the baby. It is not something that only affects one eye. Doctors usually diagnose this condition as soon as the baby is born. Because when you look at the eyes, it is clear that this iris is missing. No matter how small the baby's iris is, this condition (Aniridia) will definitely affect his vision. Also, it can be a reason for other eye problems as he grows up.
Why does this happen to our little ones? What causes Aniridia?
Now you're probably thinking, "Why did this happen to my baby?" Aniridia is a genetic disorder. That is, it is caused by a change in the genes inside the cells of our body.
To be precise, the main cause of this is a change in a gene called (PAX6) . This (PAX6) gene is very important. Because, while the baby is in the womb, this gene helps in the formation of the baby's eyes, some parts of the brain, spinal cord and organs such as the pancreas. This genetic change usually occurs between 12 and 14 weeks of pregnancy.
Who is more likely to develop this condition (Aniridia)? (Risk factors)
Aniridia is most common in children whose parents have the condition. For example, if either parent has Aniridia, there is a 50/50 chance that their child will also have it.
But this doesn't mean that if you have Aniridia, all your children will have it. It just means that there is a slightly higher risk than others.
Also, sometimes a child can develop this condition even if both parents do not have Aniridia. We call it sporadic, meaning it occurs randomly . Roughly one in every three children can develop Aniridia this way.
What are the symptoms we can see in a baby with Aniridia?
Because the colored part of the baby's eye, the iris, is missing, the pupil may appear larger than normal. Sometimes the shape of this pupil may change from side to side. Also, it may be difficult for them to adjust their eyes to bright or dim light. This can cause symptoms such as:
- Complete or partial loss of vision: Vision may be reduced in one or both eyes.
- Blurred vision: You may not be able to see things clearly.
- Eye pain: Sometimes the eyes can hurt.
- Low vision: Vision may be very poor.
- Photophobia: Difficulty looking at light, eyes may feel blue.
Can Aniridia cause other complications?
Yes, a child with Aniridia may not only have a reduced iris, but also parts of the eye that help with vision, such as the optic nerves and retinas.
Also, as children with Aniridia grow older, they are more likely to develop several other eye diseases. For example:
- Cataracts: Clouding of the lens of the eye.
- Cloudy corneas: Clouding of the transparent membrane at the front of the eye.
- Glaucoma: A condition in which the pressure inside the eye increases, damaging the optic nerve.
- Nystagmus: Rapid, uncontrolled movement of the eyes back and forth.
Another important thing is that children with sporadic aniridia, in particular, are at increased risk of developing a rare type of kidney cancer called Wilms tumor. Because the gene (PAX6) we talked about earlier affects not only the eyes but also the development of other parts of the body, including the kidneys, changes in that gene can affect other parts as well. Therefore, doctors are paying attention to this as well.
How do doctors accurately diagnose this condition (Aniridia)?
Usually, the doctor can diagnose this condition (Aniridia) as soon as the baby is born, because it is immediately apparent that the baby's eyes are missing an iris.
However, if you are worried that your baby may have Aniridia or another genetic condition, whether it is because someone in your family has the condition or for other reasons, you can talk to your doctor about prenatal genetic testing . This involves taking a blood sample from you to see if your baby is at risk of having a genetic condition. Sometimes, a test called amniocentesis may be done. This involves taking a small sample of the amniotic fluid that surrounds the baby and testing it.
What can be done to treat a baby with Aniridia?
When treating the condition (Aniridia), doctors' main goal is to maintain and improve the baby's vision as much as possible.
The most important thing is to have your baby's eyes checked regularly by an ophthalmologist. The sooner you detect changes in your baby's eyes, the better your chances of managing symptoms and preventing complications.
The baby may need one or more of the following treatments:
- Glasses or Contact Lenses: Like other people with vision impairments, children with Aniridia can improve their vision by using glasses or contact lenses. Specialized colored contacts are available for children with Aniridia. These look exactly like the iris of the eye. They also help control the amount of light entering the eye and reduce sensitivity to light.
- Medications: If your baby has glaucoma or corneal problems, the doctor may prescribe medicated eye drops, artificial tears, or other medications .
- Surgery: If a cataract develops, it may need to be removed with cataract surgery . Also, glaucoma surgery may sometimes be needed to control the condition. As a newer treatment, some children may have the option of having implanted artificial irises. However, since this is still a very new treatment, it is not suitable for all children. This is a decision that is made by the doctor.
What are the situations when you should see a doctor immediately?
If you notice any changes in your child's eyes or vision, see a doctor as soon as possible. You can also ask the doctor questions like:
- How often should I have my baby's eyes checked?
- Is artificial iris transplantation suitable for my baby?
- What are the chances of my baby developing complications?
- What changes or symptoms should I be especially aware of?
In an emergency, that is, if you see any of the following symptoms, you should take your child to a hospital immediately:
- If you suddenly lose your sight.
- If you experience severe pain in your eyes.
- If you start to see new lights in front of your eyes, or if you start to see black floaters.
If my baby has Aniridia, what should I expect?
If your baby has Aniridia, you can expect some vision problems. Also, he will need to have eye exams at regular intervals throughout his life. This is to monitor the health of his eyes.
According to statistics, about eight out of ten children with Aniridia have poor vision or some kind of disability. Also, many people with Aniridia develop glaucoma, usually between the ages of 10 and 20.
However, don't be alarmed by these statistics. This does not mean that every baby born with Aniridia will have all of these things. Talk to your doctor or ophthalmologist to find out what factors may specifically affect your baby and what to expect as they grow up.
It's normal to feel scared and shocked when you find out that your newborn has a condition that affects their vision at birth. Aniridia can cause a variety of problems, but there are treatments that can help.
The most important things we need to remember from this story (Take-Home Message)
Okay, so let's put together some of the most important points from what we've talked about and remember them:
- Aniridia is a condition in which a baby is born without all or part of the colored part of the eye, the iris.
- This is a genetic condition. Specifically, the gene (PAX6) is involved in this.
- This condition definitely affects vision. Over time, it can also lead to other eye diseases such as cataracts and glaucoma.
- The most important thing is to recognize this condition early and have your child's eyes checked regularly by an ophthalmologist at regular intervals. This is something that should definitely be done.
- There are treatments for the condition (Aniridia). These include glasses, contact lenses, medications, and sometimes even surgery.
- It's normal to feel scared and sad when you find out that your baby has this condition. But the most important thing is not to panic and to act based on proper medical advice. Your doctor will provide you with all the support you need.
If you have any further questions about this, don't keep them to yourself. Ask your family doctor or ophthalmologist.
` Aniridia, iris of the eye, colored part of the eye, visual impairment, PAX6 gene, eye diseases, pediatric eye diseases
💬 අදහස් (0)
තවමත් කිසිදු අදහසක් පළ කර නොමැත. ඔබේ අදහස පළමු වරට මෙහි එක් කරන්න.
ඔබේ අදහස එක් කරන්න