Gene therapy saves Emirati siblings from blindness
Doctors said the sisters suffered from RPE65-related retinal dystrophy, a genetic disorder in which the RPE65 protein is lacking.
Two Emirati girls were among the first patients in the world to benefit from genetic therapy to be saved from possible blindness.
The siblings, Alia, 13, and Hessa, 11, received the vision-saving treatment for retinal dystrophy at Cleveland Clinic Abu Dhabi's Eye Institute recently.
At a media briefing on Tuesday, doctors said the sisters suffered from RPE65-related retinal dystrophy, a genetic disorder in which the RPE65 protein is lacking. As this protein is required to maintain the retina, if left untreated, the disease would lead to progressive damage to eyesight and permanent blindness.
Using a bioengineered non-pathogenic virus, the groundbreaking genetic therapy delivers normal copies of the RPE65 gene to the eye, allowing for the production of the protein, helping to preserve and even repair the tissue of the retina.
"The prospect of slowly losing one's vision from an untreatable condition is traumatic for both children and their parents," said Dr Arif Khan, a paediatric ophthalmologist and ocular geneticist at Cleveland Clinic Abu Dhabi.
"This genetic therapy means we can now replace the faulty gene in the eye, saving and even improving the vision of an individual who would otherwise have eventual irreversible blindness. This is extremely significant," he added.
"I'm now able to see clearly even in the dim light. I can read books and write properly unlike before," Hessa told Khaleej Times.
Her mother said: "I am so proud that my children have been able to benefit from this treatment. The idea of them losing their vision terrified me and now they can continue to focus on their schooling to give back to this great nation that has given us so much.
"I am so thankful to the doctors at Cleveland Clinic Abu Dhabi and the government for helping my family."
Dr Khan diagnosed the disease in the two sisters and led the Cleveland Clinic Abu Dhabi initiative to bring the treatment to Abu Dhabi.
"After a long study, we decided to introduce this treatment in the UAE. We had found out that the retinal dystrophy disease is more common in this region than any other part of the world," said Khan, adding that this is a rescue operation and it's very important to treat the rare condition at an early stage to be more effective.
RPE65- related retinal dystrophy occurs when a child inherits two copies of the defective RPE65 gene from both parents. Each asymptomatic parent carries one defective copy of the gene. While rare, it is more common in the Gulf due to unique factors in the population. The deficiency is suspected by careful clinical examination and is confirmed by specialised genetic testing.
Dr Emad Abboud, chief of the department of the posterior segment at the Eye Institute, said genetic therapy to treat the condition is best performed at a young age, before significant retinal damage has occurred.
"The very delicate and complex surgery takes an hour and it takes a week for the patient to recover after treatment," said Abboud.
The therapy was given approval recently by the Ministry of Health and Prevention, following extensive clinical trials in the US. Since undergoing their treatment, Alia and Hessa have shown improvement and continue to be closely monitored by their care team.
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