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Baby Born Without Eyes: What Is Bilateral Anophthalmia?
It wasn’t spotted during Laura’s “straightforward pregnancy“, nor immediately following Margot’s “fairly dramatic” birth.
“John delivered her at home on the floor unexpectedly – that wasn’t something that was planned,” Laura, a school administrator, said.
“The labour came on quite quickly but our labour ward was full and they couldn’t accept me,” Laura said.
John, 33, a manager at York Theatre Royal, added: “They put a midwife on speakerphone and she talked me and Laura through what we had to do.”
Several hours later, they suddenly noticed she didn’t look quite as expected.
Laura Asked “I was holding her and I just said to John, ‘Do you think everything’s okay because something doesn’t feel quite right?’
“Margot hadn’t yet opened her eyes and her face just looked unusual.”
Margot was seen by a series of paediatric doctors, one of whom tried to prise open her eyes with small metal clamps before being referred to a specialist paediatric ophthalmologist.
It wasn’t until Margot was four days old that she was diagnosed with bilateral anophthalmia.
“It sounds such a horrendous thing to say now because Margot is so beautiful, and she has changed our lives for the better, but at the time it was extraordinarily traumatic,” Laura said.
“The whole situation feels like a trauma.”
Kate from Guide Dogs has been helping since she was 12 weeks old, making her one of the youngest children the charity has worked with.
Since then, Laura and John have watched their little girl learn new skills and surpass “all our expectations”.
It will be a “long time” before Margot interacts with the guide dogs, but she is learning essential tasks like standing up, moving about, and developing core strength.
“Life today looks completely different to when she was first born,” John said.
“We haven’t found anything that she doesn’t like.
“She’ll sit next to her sister, just touching things, anything, because she doesn’t know what anything looks like so you just give her something to feel and she can spend ages mapping it out with her fingers and getting to know what it is.
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“Regardless of her having to have surgery every few months and having to constantly go to the hospital and be prodded at, and her sister throwing footballs at her and all the appointments that she has had, she’s just very, very happy, and very content.”
Margot’s family celebrated her first birthday in October.
What Is Bilateral Anophthalmia?
Bilateral anophthalmia is the complete absence of one or both eyes.
It is a rare condition that occurs during early foetal development, it may be unilateral or bilateral.
It does not always show up on ultrasound scans.
Treatment cannot create or restore vision, but children can be fitted with prosthetic eyes for cosmetic purposes and to promote socket growth.
Causes Of Bilateral Anophthalmia
It can be caused by genetic mutations and abnormal chromosomes, other factors that can cause Bilateral anophthalmia include:
- Taking medications that include isotretinoin or thalidomide during pregnancy. Isotretinoin treats acne. Thalidomide treats cancer and some skin conditions.
- Exposure to X-rays or other forms of radiation during pregnancy.
- Exposure to chemicals, like drugs or pesticides, during pregnancy.
- Having infections like rubella and toxoplasmosis during pregnancy.
- Having Maternal vitamin A deficiency.
