Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease

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...

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Detalles Bibliográficos
Autores principales: Purzycka-Olewiecka, Joanna Karolina, Hetmańczyk-Sawicka, Katarzyna, Kmieć, Tomasz, Szczęśniak, Dominika, Trubicka, Joanna, Krawczyński, Maciej, Pronicki, Maciej, Ługowska, Agnieszka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859910/
https://www.ncbi.nlm.nih.gov/pubmed/36576693
http://dx.doi.org/10.1007/s11011-022-01148-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859910/
https://www.ncbi.nlm.nih.gov/pubmed/36576693
http://dx.doi.org/10.1007/s11011-022-01148-5

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