Progression of early postnatal retinal pathology in a mouse model of neuronal ceroid lipofuscinosis

Purpose: Accumulation of autofluorescent storage material in the CNS is a hallmark of neuronal ceroid lipofuscinosis (NCL, Batten disease). Since the retina is generally the first CNS target affected in NCL and could serve as a means to assess early disease progression as well as potential therapeutic responses, we followed the course of postnatal retinal pathology in tissues from the CLN8 (mnd) mouse model of NCL. Results: Cytoplasmic inclusions in the retinal ganglion cell (RGC) layer were shown by periodic acid schiff stain by P7. TUNEL measurements of cell death became significant at P21 (P<0.001) with most cell death occurring in the photoreceptor layer. Significant autofluorescence and RGC hypertrophy were evident in mndmice at P0, prior to eye opening or significant cell death. Conclusion: An increased understanding of the timing, location, and characteristic retinal pathologies of Batten disease may lead to diagnostic and therapeutic advances in the clinical setting.