Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy

PURPOSE: To characterize the retinal phenotype of juvenile neuronal ceroid lipofuscinosis (JNCL), highlight delayed and mistaken diagnosis, and propose an algorithm for early identification. DESIGN: Retrospective case series. PARTICIPANTS: Eight children (5 female) with JNCL. METHODS: Review of clin...

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Detalles Bibliográficos
Autores principales: Wright, Genevieve A., Georgiou, Michalis, Robson, Anthony G., Ali, Naser, Kalhoro, Ambreen, Holthaus, SM Kleine, Pontikos, Nikolas, Oluonye, Ngozi, de Carvalho, Emanuel R., Neveu, Magella M., Weleber, Richard G., Michaelides, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479512/
https://www.ncbi.nlm.nih.gov/pubmed/31926949
http://dx.doi.org/10.1016/j.oret.2019.11.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479512/
https://www.ncbi.nlm.nih.gov/pubmed/31926949
http://dx.doi.org/10.1016/j.oret.2019.11.005

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