Vision Loss as the Presenting Sign in Juvenile Neuronal Ceroid Lipofuscinosis

OBJECTIVE:To review cases of juvenile neuronal ceroid lipofuscinosis (JNCL) and highlight salient clinical and diagnostic features, thereby enhancing recognition of this disease among ophthalmologists. MATERIALS AND METHODS:Twelve cases of JNCL seen from 1982 to 1999 were reviewed. Diagnosis was bas...

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Veröffentlicht in:	Journal of neuro-ophthalmology 2000-06, Vol.20 (2), p.111-115
Hauptverfasser:	Bohra, Lisa I, Weizer, Jennifer S, Lee, Andrew G, Lewis, Richard Alan
Format:	Artikel
Sprache:	eng
Schlagworte:	Age of Onset Biological and medical sciences Blindness - diagnosis Ceroid - analysis Child Child, Preschool Conjunctiva - chemistry Electroretinography Female Humans Infant Intelligence Tests Lipofuscin - analysis Male Medical sciences Metabolic diseases Neuronal Ceroid-Lipofuscinoses - diagnosis Ophthalmoscopy Other metabolic disorders Pigments (porphyrias, hyperbilirubinemias...) Visual Acuity
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