Ocular therapies for neuronal ceroid lipofuscinoses: More than meets the eye

Abstract

The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of inherited, neurodegenerative, lysosomal storage diseases typically manifesting in childhood. There are currently 13 known forms of NCL resulting from various mutations in the CLN (ceroid lipofuscinoses neuronal) genes (CLN1-8 and CLN10-14). Although varying in onset and severity, the NCLs share several phenotypic features including seizures, motor dysfunction, cognitive decline, and progressive loss of vision (Mole et al., 2011). Current treatment strategies being investigated in pre-clinical studies and early stage clinical trials primarily target the brain and spinal cord. While these potential therapeutics show promise in attenuating neurological disease, protection against retinal dysfunction and degeneration is generally ineffective or not reported.