DBGen participates in the 9th Congress of the Pan American Retina and Vitreous Society (11/15-18/2022)

This week the ninth congress of the Pan American Retina and Vitreous Society (SPRV) is being held in Buenos Aires, Argentina. The congress brings together ophthalmologists and patient associations to discuss research findings and share the advances in the field of diagnosis, prevention and treatment of visual dysfunctions that affect the retina and vitreous.

The DBGen team has contributed with the oral presentation: «Leber’s Congenital Amaneurosis by RPE65 in Argentina». This work, presented by Marcela Ciccioli, president of the Association of Parents of Children with Stargardt Disease (Stargardt APNES), is the result of an intense collaboration between APNES and DBGen.

Leber Congenital Amaurosis (LCA) causes hereditary blindness in children with an overall prevalence between 1:30,000-1:80,000. 5% of LCA patients are carriers of pathogenic genetic variants in the RPE65 gene. To date, more than 200 variants in RPE65 have been identified that cause LCA and other early-onset hereditary retinal dystrophies.

There is a gene therapy approved by the FDA, EMA, and recently by ANMAT in Argentina for the treatment of this pathology. The therapy consists of the transfer of the «functional» gene (RPE65) by microinjection of a carrier-adenovirus into the patient’s retina. Its application has been approved for patients with biallelic mutations in RPE65 and sufficient retinal cell viability.

The work presented at the congress is based on a population study to identify LCA pediatric patients with biallelic mutations in RPE65, as putative candidates for the approved gene therapy.



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