Parents stunned as baby girl born without eyes due to anophthalmia, a rare genetic disorder

A baby has been born with a rare genetic condition affecting only 30 people worldwide.

Her mother, Taylor Ice, from the US, said she knew something was off on the day she was born.

“I did notice she wasn’t opening her eyes, so I asked the nurse,” Taylor told local news station KFVS 12.

“She told me, ‘Well, in the womb, it’s dark, so they don’t normally open their eyes right away.’”

But, Taylor’s baby never opened her eyes, reports The Sun.

Taylor continued: “The pediatrician’s going over the baby, and he just stops with his examination and looks up at us and says, ‘Your daughter doesn’t have any eyes’.

“I just looked at him and said, ‘Do you mean they’re small?’ He goes, ‘No, they aren’t there.’

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

Although Taylor had just given birth via C-section, on the same day she drove over 240 km with her husband Robert and newborn Wrenley to St Louis Children’s Hospital in Missouri.

The family spent nine days there, waiting for answers.

Robert said: “It was, for me, confusing because one diagnosis lead to another diagnosis, which was actually inside that diagnosis.

“It was just as lot to take in at one time. So each time we got a new diagnosis, and we were just researching.”

Doctors eventually determined that baby Wrenley was born with anophthalmia, a genetic condition which causes babies to be born without eye tissue or optic nerves.

Wrenley was also born without cortisol, and it is the combination of all of these factors that meant her eyes were sealed shut.

Dr Nate Jensen, a geneticist at the children’s hospital, told the family that her condition is rare – with less than 30 known cases worldwide.

He added: “In PRR-12 disorder there’s a spectrum of how patients are affected by it.

“Some patients with the same gene change have one eye affected and it might be totally absent like in Wrenley’s case, or it might just be smaller, and in this case, both of the eyes are affected and both are completely absent.”

Although the research on the condition is limited, Doctor Jensen warned that it could impact Wrenley’s intellectual and physical development.

He also said that there was a 50 per cent chance Wrenley could pass the rare disorder onto any future children.

What is anophthalmia?

Anophthalmia is a rare genetic condition that causes the absence of the eye. Children could be born with one eye, or both eyes, missing from their eye sockets. The condition develops during pregnancy, and may not show up on ultrasound scans. It is thought the condition is caused by genetic mutations and abnormal chromosomes. Some researchers believe that environmental factors, like exposure to chemicals, drugs, viruses etc., may increase the risk of anophthalmia – but research is limited. At the moment, there is no known treatment that could restore vision in affected children. Children with the condition are often fitted with prosthetic eyes to ensure that the soft tissue around their eye sockets grow properly. They will need to make repeated visits to hospital throughout their life, but especially in their formative years.

Yet, while it is currently unclear what causes the genetic abnormality, experts maintain that there’s nothing Robert or Taylor could have done to prevent it from occurring.

Dr Jensen said: “There’s nothing Wrenley’s mother or father did to cause this.

“There’s nothing either could’ve done to prevent it – it’s totally random.”

At the moment, there is no know treatment that can bring back eyes, so doctors are focused on giving children prosthetic eyes – to help bone and soft tissue growth around their eye sockets.

In the next few days, Wrenley is expected to undergo surgery to have prosthetic eyes fitted.

The Ice family have also launched a GoFundMe page to cover the costs of Wrenley’s medical bills, as well as the 300-mile-trips from their home to the children’s hospital.

One family in the UK revealed that anophthalmia actually did very little to stunt their child’s development.

And, in a rare case of anophthalmia, a young boy who was born without eyes grew eyeballs eight months later.

This article originally appeared on The Sun and was reproduced with permission.

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