Experimental therapeutic approaches for the treatment of retinal dystrophy in neuronal ceroid lipofuscinosis

Abstract

Neuronal ceroid lipofuscinosis (NCL) is a group of rare and fatal neurodegenerative lysosomal storage diseases. Progressive retinal degeneration and loss of vision are among the characteristic symptoms of affected patients. Abrain-directed enzyme replacement therapy has been shown to significantly attenuate the neurological symptoms in CLN2patients and is currently the only approved therapy for NCL; however, there is presently no treatment option for retinal dystrophy in NCL. This short review aims to give an overview of preclinical studies that have developed and evaluated therapeutic strategies for the treatment of retinal dystrophy in animal models of different NCL forms. The key findings of preclinical studies that have achieved positive therapeutic effects on retinal structure and/or function using different treatment strategies are summarized and discussed. The published data on preclinical studies demonstrate the efficacy of different therapeutic strategies to attenuate retinal degeneration and vision loss in animal models for different NCL forms. It remains to be seen whether these promising results can be confirmed in future clinical studies.