Bothnia dystrophy is a hereditary form of blindness mainly found in Västerbotten, Sweden. Recent research indicates that gene therapy could enhance vision for those affected by this condition.
Bothnia dystrophy is a hereditary form of blindness predominantly seen in the Västerbotten region of Sweden. A recent study conducted at Karolinska Institutet and published in Nature Communications demonstrates that gene therapy may help improve vision in patients with this disorder.
This condition typically appears in Västerbotten, although cases have also been reported globally. Bothnia dystrophy causes a gradual loss of vision due to the degeneration of retinal cells. This is triggered by a genetic mutation that damages a specific eye protein. At present, there are no available treatments for this condition.
Researchers at Karolinska Institute sought to determine if gene therapy could enhance visual capabilities in affected individuals. They utilized a viral vector—a specially engineered virus carrying a healthy version of the RLBP1 gene, which is defective in those with Bothnia dystrophy.
The viral vector was administered beneath the retina using a sophisticated surgical technique on 12 patients diagnosed with the disorder. The goal was for the retinal cells to absorb the viral vector and subsequently produce the normal protein.
Initial findings reveal that 11 out of the 12 participants experienced significant improvements in visual function.
“These findings are crucial since hereditary blindness is the leading cause of vision loss among younger, working-age individuals, and most affected persons lack treatment options,” remarks Helder André, a researcher involved in the study from the Department of Clinical Neuroscience at Karolinska Institutet.
Post-treatment, the research team monitored participants for a year to assess both the safety and efficacy of the therapy on visual function. Notably, eleven subjects showed significant improvements in night vision, leading to a better self-reported quality of life. The study found no severe side effects linked to the therapy.
“Our research offers hope that many patients might regain their vision eventually. It also strengthens the notion that gene therapy could be effective for inherited diseases in general,” states Anders Kvanta, the leading professor of ophthalmology in the department.
The next phase will involve a larger study comparing the outcomes of treated participants with those who did not receive treatment.
The research was conducted at St. Erik Eye Hospital in Stockholm, funded by Novartis, which also had employees on the research team. However, no personnel at St. Erik’s Eye Hospital have any connections with Novartis or other potential conflicts of interest.
