While variants in genes associated with neuronal ceroid lipofuscinosis (CLN3 (OMIM 607042), CLN5 (OMIM 608102), and MFSD8/CLN7 (OMIM611124)) typically lead to severe neuronal dysfunction and lysosomal storage in neurons and the peripheral tissues, some variants present with isolated retina disease (Bauwens et al. 2020; Khan et al. 2017; Ku et al. 2017; Magliyah et al. 2021). The gene discussed is MFSD8; the disease is neuronal ceroid lipofuscinosis.