Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features

PURPOSE: To report atypical presentation of neuronal ceroid lipofuscinoses type 8 (CLN8) to the eye clinic and review clinical features of CLN8. OBSERVATIONS: Detailed eye exam by slit lamp exam, indirect ophthalmoscopy, fundus photography, optical coherence tomography, visual fields and electroreti...

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Detalles Bibliográficos
Autores principales: Sanchez, Rossana L., Yan, Jiong, Richards, Sarah, Mierau, Gary, Wartchow, Eric P., Collins, Christin D., Shankar, Suma P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Case report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5757465/
https://www.ncbi.nlm.nih.gov/pubmed/29503925
http://dx.doi.org/10.1016/j.ajoc.2016.07.005

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