In September 2018 two relevant meetings related to ocular diseases, the RD2018 International Symposium on Retinal Degeneration and the ISER (International Society for Eye Research) Conference, have taken place in Ireland. In particular, the RD2018 meeting, in which the DBGen team presented two contributions, has focused on the latest advances in genetic diagnosis, disease mechanisms and therapeutic approaches of Retinal Dystrophies, including Age-Related Macular Degeneration and Glaucoma. Among the most relevant advances in the treatment of visual disfunction stand out drug, gene and cell therapies for Leber Congenital Amaurosis, X-linked Retitinis Pigmentosa, Best’s disease and Achromatopsia.
The safety and efficacy of a treatment based on a composite subretinal implant in patients affected with dry age-related macular degeneration was also reported (clinical study phase 1/2a). Most gene therapy strategies still rely on gene augmentation and several authors reported successful outcomes for AAV-derived vectors used to deliver the therapeutic gene by subretinal injection, as is the case of Luxturna, the first FDA-approved prescription gene therapy to treat the effects of RPE65 biallelic mutations. Also deserves special mention the reports on the use of small molecules, such as antisense oligonucleotides (AONs) that target mutations causative of aberrant splicing events. Among them, the preliminary results of the Phase 1/2 clinical trial in a small cohort of patients, using intravitreally delivered AONs to correct the effect of the prevalent deep-intronic mutation in CEP290 (p.Cys998X, c.2991+1655A>G) (developed by ProQR) were very promising. In summary, the results presented in the RD2018 meeting highlighted relevant advances in the treatment of ocular diseases and raised hopes for upcoming effective therapies.