Two parents in Missouri were distraught after their daughter was born without eyes: the infant suffers from a rare genetic disorder known to affect only 30 people in the world

Two parents in Missouri were distraught after their daughter was born without eyes: the infant suffers from a rare genetic disorder known to affect only 30 people in the world

A baby girl was born in Missouri with a genetic condition that affects only 30 people in the world, leaving her without eyes.

Taylor Ice was thrilled when she became pregnant last year after more than a year of struggling with fertility.

Throughout her pregnancy, doctors told Ms. Ice and her husband, Robert, that their baby girl was healthy.

However, when Renly was born on November 6, 2023, her parents realized something was wrong.

“I noticed she wasn’t opening her eyes, so I asked the nurse,” Ms. Ice told local news station KFVS 12.

“Well, in the womb, it’s dark, so they don’t usually open their eyes right away,” she said to me.

However, Renly never opened her eyes.

Robert and Taylor Ace were stunned when their daughter Renly was born without eyes

Robert and Taylor Ace were stunned when their daughter Renly was born without eyes

Renly has a partial deficiency of the PRR-12 gene, resulting in her eyes not developing in the womb

Renly has a partial deficiency of the PRR-12 gene, resulting in her eyes not developing in the womb

“The pediatrician examines the child, stops examining him, looks at us and says, ‘Your daughter doesn’t have any eyes,'” Ms. Ice said.

I just looked at him and said, “You mean they’re young?” And he says, “No, they’re not there.”

“I burst into tears because I couldn’t fully comprehend what that meant at the time.”

Although Ms. Ice had just given birth via C-section, that same day the family drove 150 miles to St. Louis Children’s Hospital, where they spent nine days searching for answers.

“It was confusing for me, because one diagnosis led to another diagnosis, which was actually within that diagnosis,” Mr. Ice said.

It was a lot to take in at once. So every time we got a new diagnosis, we would just do research.

Finally, doctors determined that Renly was born with anopia, a condition that caused no tissue in the eye or optic nerve – which processes visual information in the brain – to develop.

They also do not produce cortisol, a stress hormone produced by the adrenal glands.

All of this caused her to close her eyes.

“I couldn’t believe something like this had happened to us,” Ms. Ice said.

On the same day Lady Ace gave birth to Renly, the family drove 150 miles to St. Louis Children's Hospital, where they spent nine days searching for answers.

On the same day Lady Ace gave birth to Renly, the family drove 150 miles to St. Louis Children’s Hospital, where they spent nine days searching for answers.

Later this week, Renly will undergo surgery to open her eyelids and place prosthetics in place of her eyes to help her facial structure develop normally.

Later this week, Renly will undergo surgery to open her eyelids and place prosthetics in place of her eyes to help her facial structure develop normally.

Genetic tests showed that Renly had a condition known as PRR-12 haploinsufficiency, which resulted in her eyes not developing in the womb.

Experts estimate that only 30 cases have been reported in the world. “We had a better chance of winning the Powerball,” Ms. Ice said.

“This is an incredibly rare condition,” Dr. Nate Jensen, a geneticist at St. Louis Children’s Hospital, told KFVS 12.

“There is a wide range of how patients can be affected by it. Some patients with the same genetic change have only one eye affected. It (the eye) may be completely absent, as in Renly’s case, or it may be smaller in size.”

“In this case, both eyes are affected, and both are completely absent.”

Although research on PRR-12 is very limited, it may cause intellectual and developmental delays, Dr. Jensen said.

Although Ms. Ice’s pregnancy was normal, it is possible that the parents unknowingly passed on genetic mutations.

Dr. Jensen estimates there is a 50% chance that Renly will be able to pass the condition on to her children in the future.

Experts aren’t sure what causes the PRR-12 gene abnormalities, although they believe the Ice family could have done nothing to prevent it.

“Neither Renly’s mother nor father did anything to cause this,” Dr. Jensen said. “There’s nothing you can do to prevent this, it’s completely random.”

There is no treatment that can restore the eyes, and instead doctors focus on giving children prosthetics to help them live relatively normal lives.

The family has launched a GoFundMe to cover the 300-mile round-trip trips from their home in Poplar Bluff to the hospital in St. Louis, as well as medical costs as Renly grows.

Later this week, Renly will undergo surgery to open her eyelids and place prosthetics in place of her eyes to help her facial structure develop normally.

“It’s like the whole world is at your fingertips,” Mr. Ice said. “In the long run, I feel like we are the ones who were chosen to help her along the way and that we will learn from her as well.”

The family is now focused on helping Renly navigate the world without being seen. She sleeps every night wearing one of her parents’ shirts to get used to their smell.

“Well, everyone learns by seeing – they learn by seeing things – so with her, she’ll have to learn to feel her surroundings and smell her surroundings,” Ms. Ice said.

“It’s hard for us to imagine what life would be like if we couldn’t see. If someone took away my vision, I would be devastated.

“But for her, this is just her normal situation.”

What is anosmia?

Anophthalmia means absence of the eye.

A baby may be born with one or both eyes missing from the eye socket.

This rare disorder develops during pregnancy and can be associated with other birth defects.

This condition may be caused by genetic mutations and abnormal chromosomes.

Researchers also believe that environmental factors, such as exposure to X-rays, chemicals, medications, pesticides, toxins, radiation or viruses, increase the risk of eye loss, but research is inconclusive.

Unfortunately, there is no treatment capable of restoring vision in children with vision loss.

Children will need to undergo frequent visits to hospital and many have artificial eyes to ensure that the bones and soft tissue around the eye socket develop properly and to improve appearance.

Source: Children’s and Young Optometry Association

(tags for translation) Daily Mail

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