Ameera and Alhanoof Ahmed Abdulla are like any other 6-year-olds. The kindergarteners love to buy toys from the store, get together with their cousins, and play on the playground.
But their father, Ahmed Abdulla, remembers a time when he worried his daughters might not have a typical childhood.
The twins were born in October 2017 in the United Arab Emirates (UAE).
“We saw that there was something on their eyes," Ahmed says. The girls' eyes looked cloudy and grayish.
An eye doctor in the UAE told Ahmed and his wife that the girls could have a genetic disorder. “It was like a bad dream for us, but this is what God has given," Ahmed recalls.
He and his wife searched the internet for information. They took the girls to several doctors in the UAE. All agreed this was a particularly rare condition.
“They told me this is a serious condition that needs treatment soon," Ahmed says. “After 2 or 3 months, the cloudiness in the cornea will affect the optic nerve."
The girls needed an expert right away.
Ameera and Alhanoof's Path to UPMC Children's Hospital of Pittsburgh
A doctor in the UAE recommended Ken K. Nischal, MD, FRCOphth, chief of the Division of Pediatric Ophthalmology and Strabismus at UPMC Children's Hospital of Pittsburgh. Dr. Nischal is a world-renowned expert in corneal diseases caused by gene changes (mutations).
Soon, Ahmed and his family were on their way to Pittsburgh for an examination. The girls were just 7 weeks old.
Dr. Nischal examined the babies and saw tell-tale scratch-like lines on their skin. He diagnosed them with microphthalmia with linear skin defects syndrome (MLS). This very rare genetic disorder causes malformations of the eyes.
Genetic testing by his colleagues in the Ocular Genetics Treatment Center confirmed his diagnosis. Ocular genetic testing is important for children born with certain eye conditions (congenital conditions). These conditions can affect a child's health and development, Dr. Nischal says.
The Challenge: Is There Vision to Preserve?
Dr. Nischal used advanced visual electrophysiology testing and ultrasound of the eye (ocular ultrasound) to determine how much vision each girl had. UPMC Children's Hospital is one of the few medical centers in the United States using visual electrophysiology to determine potential vision in babies.
“These tests help answer the question, 'what can I do to help this child?'" Dr. Nischal says.
He determined that each girl did not have the potential for vision in the left eye.
The cornea of Ameera's right eye had some cloudiness (opacity) but still had vision. She also had astigmatism, a condition in which the eye is not completely round. Her left eye was small and didn't develop as it should have (anophthalmia).
Alhanoof's case was more complicated. She had corneal opacity in her right eye, with the colored part of her eye (iris) attached to her cornea. Her left eye was very small, with no lens and a cornea that appeared silver.
The Solution: Personalized Care
The UPMC pediatric ophthalmology team fitted each girl's left eye with a plastic device (conformer) to create space for an artificial eye. Dr. Nischal performed surgery (optical iridectomy) on Alhanoof when she was just 4 months old.
He removed part of her iris to create a clear pupil and inserted a phakic (plastic) lens where no lens existed. In May 2022, Alhanoof had a second surgery to remove the lens.
The Result: Functional Vision
The UPMC team fitted the girls with glasses. Today, both Ameera and Alhanoof have functional vision. They return to UPMC for follow-up visits with Dr. Nischal about every 9 months and they also see a doctor in the UAE.
Follow-up care is vital because brains continue to take in information related to vision until a child is 8 years old.
“Vision is a developing neurobiological system," Dr. Nischal says. Monitoring the girls closely helps make sure they have the most visual potential, he adds.
Ahmed says Dr. Nischal is now like a member of their family. They trust his recommendations and his expertise in caring for their girls. “It's important to go to the best and stay with him," Ahmed says.
Ahmed also credits the UPMC Children’s International Services team with making their first visit and all follow-up visits easier.
“They helped us with a lot of things," he says. “There are a lot of appointments and scheduling, but it's all very clear."
Dr. Nischal says parents often come in frightened, anxious, and worried about their child. But the UPMC team helps put their fears to rest.
“We have a tremendous and diverse team here," he says.
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Do you have a child who needs specialty medical care for a congenital eye condition or other diagnosis? Our International Services team is here for you. Contact us to get started.