Moorfields Eye Hospital<\/a> in London carried out tests to diagnose Saffie and then she was transferred to Great Ormond Street Hospital (Gosh) to have the eye gene therapy, Luxturna.<\/p>\nThis treatment is the first of its kind for one of the genetic causes of LCA.<\/p>\n
The one-off therapy contains a healthy copy of the gene which is injected directly into the eye.<\/p>\n
![\"Saffie,](\"https:\/\/www.newsbeep.com\/uk\/wp-content\/uploads\/2026\/04\/01KPTVXZMJS86Y7RE4R1BMS6ZZ.jpeg\")
Saffie, from Stevenage in Hertfordshire, has the rare condition Leber’s Congenital Amaurosis (LCA) which prevents cells in the eye from making a specific protein needed for normal vision. (Family handout\/PA Wire)<\/p>\n
Saffie\u2019s mother, Lisa, said: \u201cSaffie\u2019s diagnosis came as a huge shock to us as we\u2019d never heard of the condition or knew me and her dad Tam were carriers.<\/p>\n
\u201cIt was such a rollercoaster of a journey, but we were so relieved and grateful when we heard there was a treatment available on the NHS for Saffie.<\/p>\n
\u201cWe were told that without the treatment, she would be blind by the age of 30.<\/p>\n
\u201cBefore she had the treatment, her condition was really life-limiting.<\/p>\n
\u201cShe was blind in the dark, which made daily activities challenging.\u201d<\/p>\n
Saffie underwent eye gene therapy in her first eye in April 2025 and in her second eye in September.<\/p>\n
She already wore glasses having been diagnosed as short-sighted when she was two.<\/p>\n
\u201cHaving the gene treatment has been life-changing, it\u2019s like someone waved a magic wand and restored her sight in the dark,\u201d her mother said.<\/p>\n
\u201cWe\u2019ve been able to take her trick or treating and out to restaurants in the evening \u2013 something that was impossible before.<\/p>\n
\u201cHer peripheral sight in the daylight has also improved.<\/p>\n
\u201cShe\u2019s now able to see hazards and has improved at school.<\/p>\n
\u201cShe can also take part in normal activities that a six-year-old enjoys like playing on a climbing frame.<\/p>\n
\u201cShe\u2019s thriving and you wouldn\u2019t know she had the condition just by looking at her.<\/p>\n
\u201cThe results have been incredible, and we are eternally grateful that our little girl has been given her sight back.<\/p>\n
![\"\"](\"https:\/\/www.newsbeep.com\/uk\/wp-content\/uploads\/2026\/04\/01KPTVY023N861QADJHGTCR5PR.jpeg\")
(\/PA Wire)<\/p>\n
\u201cWe know it might not last forever, but we feel fortunate every day that she has been given this chance.\u201d<\/p>\n
Researchers at Gosh and University College London (UCL) have recently published research showing that Luxturna can improve sight and strengthen visual pathways at a critical stage of brain development.<\/p>\n
The team followed 15 children who were treated with the gene therapy at Gosh between 2020 and 2023 and showed it can improve visual pathway function in young children with RPE65-related retinal disease.<\/p>\n
Doctors treated babies as young as 15 months old up to the age of 12 for the study.<\/p>\n
While changes in the ability to see clearly and correctly were limited in older children, the youngest children in the study had more improvement owing to treatment being delivered during a critical period of visual development.<\/p>\n
The team also used pattern visual evoked potentials (VEPs) \u2013 a painless test that measures how well signals travel from the retina to the visual cortex.<\/p>\n
This is because traditional vision tests can be difficult for very young children or those with neurodevelopmental conditions.<\/p>\n
The team do not describe Luxturna as a cure but are hopeful for good long-term results.<\/p>\n
Longer-term data will be gathered on the drug.<\/p>\n
Rob Henderson, consultant ophthalmologist at Gosh, said: \u201cFor the first time, we\u2019ve been able to show objectively that gene therapy can strengthen the visual pathways in babies and young children who are living with this rare eye condition.<\/p>\n
\u201cFor many of the families we work with, even small improvements in their child\u2019s ability to see the world around them make a profound difference.<\/p>\n
\u201cThis research highlights not only the potential of gene therapy to change what\u2019s possible for children with inherited retinal disease, but also the importance of developing age-appropriate outcome measures.<\/p>\n
\u201cPattern VEPs could help set a new standard for how future paediatric gene therapy trials are assessed around the world.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"Your support helps us to tell the story From reproductive rights to climate change to Big Tech, The…\n","protected":false},"author":2,"featured_media":547192,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[10],"tags":[59,102,56,54,55],"class_list":{"0":"post-547191","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-health","8":"tag-gb","9":"tag-health","10":"tag-uk","11":"tag-united-kingdom","12":"tag-unitedkingdom"},"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts\/547191","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/comments?post=547191"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts\/547191\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/media\/547192"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/media?parent=547191"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/categories?post=547191"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/tags?post=547191"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}