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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Detaylı Bibliyografya
Yayımlandı:Ophthalmol Retina
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2020
Konular:
Original Article
Online Erişim: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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