Article
Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease.
Metabolic brain disease - 1 Feb 2023
Purzycka-Olewiecka Joanna Karolina, Hetmańczyk-Sawicka Katarzyna, Kmieć Tomasz, Szczęśniak Dominika, Trubicka Joanna, Krawczyński Maciej, Pronicki Maciej, Ługowska Agnieszka
Abstract excerpt
Ceroid lipofuscinosis type 3 (CLN3) is an autosomal recessive, neurodegenerative metabolic disease. Typical clinical symptoms include progressive visual loss, epilepsy of unknown etiology and dementia. Presence of lipofuscin deposits with typical pattern of 'fingerprints' and vacuolized lymphocytes suggest the diagnosis of CLN3. Cause of CLN3 are mutations in the CLN3 gene, among which the most frequently found...
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