The Cleveland Clinic Abu Dhabi at Al Marya Island Image Credit: GN Archives

Abu Dhabi: A six-month-old Emirati baby who was suffering from a rare genetic disease that affects the eyes has successfully had his vision restored following treatment in Abu Dhabi.

Mohamed Al Shehi’s parents had noticed their son’s left eye turning inwards five months after he was born. The family from Ras Al Khaimah was afraid that Mohamed had vision loss, and sought medical advice.

“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 sight,” said Abdulla Al Shehi, Mohamed’s 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,” Al Shehi said.

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Rare diagnosis

An evaluation with the Paediatric Eye Care team at the hospital revealed that Mohamed had had an unusually early onset of juvenile retinoschisis, a hereditary retinal diseases that causes splitting of the light-sensitive retinal layers and results in vision loss. About one in 25,000 males worldwide is affected by this condition, but it usually manifests later in childhood.

Dr. Arif Khan, paediatric ophthalmologist, ocular geneticist and professor of ophthalmology at Cleveland Clinic Abu Dhabi’s Eye Institute, said that the condition can often be misdiagnosed because it appears similar to other ocular conditions, and also because cases with early onset can be hard to recognise.

“Our ocular genetics service has extensive experience with rare and genetic eye disorders, particularly those that affect the retina in children. This made it possible for us to recognise that the infant had an unusually early onset juvenile retinoschisis that had led to blindness in his left eye. Our examination also revealed a lesser degree of the condition in his right eye and a need for glasses in both eyes,” Dr Khan said.

Special diagnosis methods

The doctor explained that it is often important to examine a child’s vision without the use of anaesthesia for the right diagnosis and treatment.

“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 said.

Non-surgical treatment

Mohamed was eventually treated with eyedrops to collapse the schisis or splitting. He was also fitted with glasses and prescribed patching of the right eye to treat the left eye turn and lazy eye.

“We were able to restore vision to the left eye and straighten it without surgery. Overall, [Mohamed] 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,” Dr Khan said.

Ongoing care

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 risks in other family members.

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,” Al Shehi said.