News 18 May 2021 Back to All News

Cleveland Clinic Abu Dhabi Pediatric Doctors Restore Vision in Six-Month-Old Emirati Baby with Rare Genetic Disease

Juvenile retinoschisis is a rare retinal disease that affects 1 in 25,000 males

​The Pediatric Eye Care team at Cleveland Clinic Abu Dhabi, an integral part of Mubadala Health, accurately diagnosed a rare retinal disease as the cause for vision loss in one of its very young patients and successfully restored the vision in the baby’s more severely affected left eye. 

Five months after birth, Mohamed Abdulla Al Shehi’s parents noticed that their little boy’s left eye had turned inwards. Initial consultations found the child as having an eye turn and visual loss secondary to congenital retinal detachment.

The family from Ras Al Khaimah sought a second medical opinion at Cleveland Clinic Abu Dhabi in July last year. An evaluation by the Pediatric Eye Care team at the hospital revealed that the baby, who was six months old at the time, had an unusually early onset of a genetic retinal disorder that almost exclusively affects males. Juvenile retinoschisis is a hereditary retinal disease that causes splitting of the retinal layers, resulting in a loss of vision. An estimated 1 in 25,000 males worldwide are affected by this genetic eye disease, which usually manifests in later childhood. 

“When Mohamed was five months, my wife noticed that his left eye was not in its normal place. She tried covering the right eye to see if he would respond to moving objects in front of him, but he wouldn’t. We were very scared that he had lost his vision,” says Abdulla Al Shehi, his father. “The doctor that we saw in Dubai confirmed that my son had vision loss in the left eye and suggested we consult a specialist, so we booked an appointment at Cleveland Clinic Abu Dhabi.”

Dr. Arif O. KhanDr. Arif O. Khan, Pediatric Ophthalmologist, Pediatric Ophthalmologist, Ocular Geneticist and Professor of Ophthalmology at the Eye Institute​ at Cleveland Clinic Abu Dhabi, notes that juvenile retinoschisis can be misdiagnosed as retinal detachment because the retinal appearance can be similar and, in particular, unusually early onset cases can be difficult to recognize.

“Our Ocular Genetics service at Cleveland Clinic Abu Dhabi has extensive experience with rare and genetic eye disorders, particularly those that affect the retina in children. This made it possible for us to recognize that the infant had an unusually early onset juvenile retinoschisis that led to blindness in his left eye. Our examination also revealed a lesser degree of schisis in his right eye and a need for glasses in both eyes,” says Dr. Khan.

Dr. Khan explains that the skilled multidisciplinary pediatric eye care team at Cleveland Clinic Abu Dhabi allows examination and diagnosis of young children as outpatients, even in situations where other centers might have to rely on anesthesia to examine a child. The team includes pediatric ophthalmologists, an ocular geneticist, orthoptists, nurses and technicians.

“With infants and young children, you need the right approach to ensure that they are not scared. This allows us to conduct the exam without having to sedate them. We make it seem like a game to them when actually what we are doing is gathering information,” he adds.

The baby was treated with medical eyedrops to collapse the schisis. Equally important, he was fitted with glasses and prescribed patching of the right eye to treat the left eye turn and amblyopia (lazy eye).

“We were able to restore vision to the left eye and straighten it without surgery. Overall, the child had a fantastic outcome because the correct diagnosis was made early, the retinoschisis was treated, and the pediatric eye issues that were induced by the retinoschisis were also diagnosed and treated early. These pediatric eye issues would not be picked up by a retina specialist who only works with adults,” says Dr. Khan. 

Mohamed will require ongoing care for his condition to ensure that his vision does not deteriorate and will have to continue medication to keep the schisis collapsed. 

His parents were also recommended for genetic testing to identify risk in other family members. 

“Cleveland Clinic Abu Dhabi was so comprehensive in their diagnosis and follow up. We are so thankful that the doctors were able to restore my boy’s vision. The eyesight of Mohamed’s three older siblings is fine but if we decide to have more children, we are now well-informed about the risk and will make sure to get them checked,” says Abdulla Al Shehi. 

For more information or to book an appointment at Cleveland Clinic Abu Dhabi, call 800 222 33, visit www.clevelandclinicabudhabi.ae or download the Cleveland Clinic Abu Dhabi app.

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