Ophthalmological manifestations of neuronal ceroid lipofuscinoses (NCL) NCL as diseases of brain and retina-the role of ophthalmologists

Background Neuronal ceroid lipofuscinoses are hereditary lysosomal storage diseases, which lead to a progressive neurodegeneration of the brain and retina. Visual loss can be the initial symptom but can also occur later in the course of the disease. Objective The aim of this article is to provide ophthalmologists with an overview of the characteristic ocular alterations and the general disease course of the 13 currently known various forms of NCL. Material and methods The findings from predominantly clinical articles are reviewed and summarized. Results and conclusion Retinal degeneration plays a crucial role in this group of neurodegenerative diseases. In several forms visual decline is the initial clinical symptom in affected patients. Therefore, the ophthalmologist is the first medical expert consulted. An early diagnosis is crucial for the future personal and family planning but is also important regarding upcoming therapeutic strategies, which might be much more effective in patients with early stage disease. When the presence of retinal degeneration due to an NCL disease is suspected an immediate genetic diagnostic confirmation and collaboration with neuropediatricians is recommended.

Automated summary

Neuronal ceroid lipofuscinoses are inherited lysosomal storage diseases that can result in progressive neurodegeneration. Visual decline may be the initial symptom, and early diagnosis is crucial for personal and family planning as well as therapeutic strategies. Collaboration with neuropediatricians is recommended when retinal degeneration due to an NCL disease is suspected.