![]() It was then up to Leo's family to decide. ![]() Manuela said: “We were shocked, but at least we had all the answers we needed.”įollowing the news, the teams at Moorfields and GOSH convened an MDT to assess Leo’s eligibility to receive Luxturna, a new treatment that could potentially save his sight. For Leo, this could lead to the total loss of vision by the time he was a teen. Soon after agreeing Manuela and her husband, Mitchell, found out that they were both carriers of the RPE65 gene mutation. Mariya Moosajee, consultant ophthalmologist in genetic eye disease at Moorfields and GOSH, the family was asked whether they would consider a genetic test to see whether the condition was inherited. A fateful visit to Moorfieldsĭuring a visit with Prof. The diagnosis meant that the family had answers to what was happening with Leo, but it was during an appointment at Moorfields a few months later that they learned why. It was after this that the family learned that the light sensitive cells in his retina were not working properly. So, we did what any parent might do in this situation and we started looking for answers.”Īt 18 months old, Leo came to GOSH for a test to check the function of the eye. During a family trip to Italy, we also noticed that he was looking directly into the sun or spotlights. For example, he would become distressed in dark places or hold toys and objects up to the light or very close to his face. But as the months went on, we realised things were not improving and other behaviours emerged as well. With Leo being our first baby, we tried not to worry too much at first. ![]() His mother, Manuela recalls: “We would play with him as you do with babies, pulling funny faces or moving around, and we noticed he did not react and he wasn’t tracking us. Leo was only a few months old when his parents, Manuela and Mitchell, noticed something was not right with his vision. We did what any parent might do in this situation and we started looking for answers. The treatment, also known as Luxturna, is injected under the retina inside the eye, and restores the ability to make the normal protein like that in a healthy functioning eye. Babies born with the condition have poor sight from infancy which further deteriorates, with many ultimately losing their vision completely in adulthood. The condition prevents cells in the eye from making a specific protein that is essential for normal vision. This novel treatment is the first of its kind for one of the genetic causes of Leber’s Congenital Amaurosis (LCA), a mutation in the RPE 65 gene, that causes retinal dystrophy and affects 1 in 40,000 newborns.
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