A recent study illustrated clinical improvements in patients with retinal dystrophy treated with gene therapy.
Retinal dystrophy is a rare ophthalmology condition caused by a genetic deficiency of AIPL1. The condition is characterized by severe and rapid progression of impairment of sight from birth.
This study was a non-randomized, single-arm, trial evaluating the safety and efficacy of early intervention utilizing gene supplementation therapy in patients with retinal dystrophy. Four patients between the ages of 1-2.8 years with severe retinal dystrophy associated with AIPL1 variants were enrolled. Participants were administered a subretinal injection of a recombinant adeno-associated viral (AAV) vector of human AIPL1 in one eye. Outcome measures included visual acuity, functional vision, visual evoked potentials, and retinal structure.
At a mean follow-up of 3.5 years, visual acuity scores in the treated eye had improved from a mean of 2.7 logMAR to a mean of 0.9 logMAR. Visual acuity in the untreated eyes were unmeasurable at follow-up. In two participants able to test, improvements were observed in visual function and enhanced activity in the visual cortex. In three participants, structural lamination of the outer retina was better preserved in the treated eye and in all four participants, retinal thickness was better preserved.
Safety concerns included one case of cystoid macular oedema.
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To learn more about rare ophthalmology disorders, visit https://checkrare.com/diseases/ophthalmology-eye-diseases/