Juvenile Ceroid Lipofuscinosis CLN3: A Fatal Disease with Primary Ocular Manifestation

CLN3 is a rare lysosomal storage disorder. The majority of patients suffer from neurological degeneration in the first decade of life leading to death in the second or third decade. One of the first symptoms is a rapid visual decline from retinal degeneration. Ophthalmologists need to be informed about this specific form of hereditary retinal disease to ask for the right molecular genetic test and interact with neuropediatricians early on in the disease course. Careful history may disclose already at that stage subtle signs of neurological degeneration that should not be interpreted as unwillingness to work well at school. Retinal imaging with SD-OCT helps differentiate the disease from purely ocular forms of macular and generalized retinal degeneration such as Stargardt disease, generalized cone-rod dystrophies (CRDs), and early-onset retinitis pigmentosa RP. The specific ocular phenotypes of CLN3, Stargardt disease, CRD, and early-onset RP will be demonstrated.