Symposien Freitag

Achromatopsia includes a heterogeneous group of disorders characterized by congenital cone dysfunction. Clinical presentation may be variable, and though often believed to be stationary, may include a slowly progressive course of disease. Clinical findings and current diagnostic strategies will be discussed.

Achromatopsia is a hereditary, autosomal recessive disorder characterized by the complete unresponsiveness of cones leading to a lack of color discrimination, very poor visual acuity, pendular nystagmus, and photophobia. This presentation provides an overview of the experimental work on gene replacement therapy in achromatopsia from the discovery of rescue effects to the translation to clinical trials.

Retinal gene therapy requires the precise delivery of viral vector into the subretinal space. A modified surgical technique was developed in the choroideremia gene therapy trials to overcome the challenges of detaching the thin atrophic retina. The positive results of retinal gene therapy seen at 6 months show a sustained treatment effect at 2 years.

Using induced pluripotent stem cells (iPSCs) created from patients allow testing the efficacy of gene or drug-based therapies, elucidating previously unknown mechanisms and pathways of disease, and as a source of autologous cells for transplantation.

There is a great unmet need for therapies in inherited retinal degenerative diseases. Expectations are high, but moderate in outcome: Slowing down the progression of the disease would already been seen as an excellent outcome. Challenges are the missing routine genetic diagnosis and probably in the future the market access of therapies as well as their reimbursement.