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Rare gene mutation: Baby is born without eyes

2024-02-13T09:10:50.183Z

Highlights: Rare gene mutation: Baby is born without eyes. The reason is a genetic defect that has further effects. Wrenley will never be able to see. She underwent surgery on February 9 to open her eyelids. She will later receive prosthetic eyes so that her facial structure can develop normally. There is no treatment that creates a new eye or restores full vision to those affected by anophthalmia. A baby born with these conditions should be examined by a team of specialist ophthalmologists.



As of: February 13, 2024, 10:02 a.m

By: Sandra Sporer

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During the pregnancy there were no signs of the genetic defect that caused Wrenley to be born without eyes.

(Symbolic image) © Svetlana Satsiuk/IMAGO

A couple experiences shock after the birth of their daughter.

Wrenley was born without eyes.

The reason is a genetic defect that has further effects.

Poplar Bluff – Every parent wants their children to be born healthy and happy.

This was also the case for the married couple Robert and Taylor I. After they had tried in vain to conceive a child for a year, they were both extremely happy about their first positive pregnancy test.

The pregnancy progressed without complications and during regular visits to the doctor, the couple was assured that their daughter was completely healthy.

However, there can always be surprises during birth.

For example, a woman from Bremen had a baby weighing more than five kilos - and all without a cesarean section.

However, what the couple from America learned after the birth of their daughter was a shock: their baby was born without eyes.

Baby is born without eyes - doctors puzzle for days as to how this happened

"The pediatrician was examining our baby and stopped his exam, looked at us and said, 'Your daughter has no eyes,' and said it so bluntly," Taylor tells

KFVS12

.

She had already noticed that her daughter didn't open her eyes.

When she asked a nurse about it, she calmed her down.

It is not uncommon for newborns not to open their eyes immediately.

To determine the cause of their baby's missing eyes, the parents went to Children's Hospital in St. Louis.

The doctors there puzzled for nine days until they finally made the correct diagnosis.

Wrenley was diagnosed with a mutation in the PRR-12 gene, which caused her to be born with anophthalmia, meaning no eyes.

In addition, your body does not produce the stress hormone cortisol.

Rare genetic defect found in baby without eyes

“This is an incredibly rare condition.

There are fewer than 30 described cases in the world,” explains geneticist Dr.

Nate Jensen at

KPTV

.

However, the genetic defect could have other effects on Wrenley's life.

It could affect Wrenley's physical and mental development, Jensen said.

However, research into this disease is very limited.

There is no cure for the extremely rare disease.

Wrenley will never be able to see.

Doctors therefore concentrate on improving the quality of life of the newborn.

As part of these efforts, she underwent surgery on February 9 to open her eyelids, reports

RTL

.

She will later receive prosthetic eyes so that her facial structure can develop normally.

In order to finance the travel necessary for treatment to the children's hospital in St. Louis, more than 500 kilometers away, the family has launched a fundraising campaign on GoFundMe.

What is Anophthalmia?

Anophthalmia is a birth defect in which a baby is born without one or both eyes.

It develops during pregnancy and can occur alone, in combination with other birth defects, or as part of a syndrome.

The causes of anophthalmia are unknown in most infants.

Some babies have anophthalmia due to a change in their genes or chromosomes.

It can also be caused by taking certain medicines during pregnancy.

However, the defect can also be caused by a combination of other factors.

There is no treatment that creates a new eye or restores full vision to those affected by anophthalmia.

A baby born with these conditions should be examined by a team of specialist ophthalmologists:

– An ophthalmologist (a doctor specially trained to treat eyes)


– An ocularist (healthcare provider who creates and fits prosthetic eyes)


– An oculoplastic surgeon (doctor who specializes in eye and orbit surgery)

The eye sockets are crucial for allowing a baby's face to grow and develop properly.

When a baby suffers from these diseases, the bones that form the eye socket cannot grow properly.

Babies can be fitted with a plastic structure called a conformer that supports the proper growth of the eye socket and bones.

As babies get older, these devices need to be enlarged to expand the eye socket.

As children get older, they can also have an artificial eye fitted.

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Parents want to move forward and help Wrenley as best they can

Despite the shock that their daughter will never be able to see, her parents maintain a positive attitude and want to face the challenge.

“I feel like we have been chosen to help her on her journey and that we will also learn from her,” explains Robert I.

Wrenley will have to learn to perceive her surroundings through smell and touch, says Taylor I. For example, Wrenley sleeps every night wearing one of her mother and father's T-shirts.

The familiar smell tells her that her parents are there for her.

In Germany alone, millions of people are at risk of blindness, so you should pay attention to certain symptoms.

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The editor wrote this article and then used an AI language model for optimization at his own discretion.

All information has been carefully checked.

Find out more about our AI principles here.

Source: merkur

All news articles on 2024-02-13

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