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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Detalhes bibliográficos
Publicado no:Ophthalmol Retina
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: 2020
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7479512/
https://ncbi.nlm.nih.gov/pubmed/31926949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.oret.2019.11.005
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