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

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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Bibliographic Details
Main Authors: Rossana L. Sanchez, Jiong Yan, Sarah Richards, Gary Mierau, Eric P. Wartchow, Christin D. Collins, Suma P. Shankar
Format: Article
Language:English
Published: Elsevier 2016-12-01
Series:American Journal of Ophthalmology Case Reports
Subjects:
Chromosome microarray
Epilepsy
Lysosomal storage disorder
Neuronal ceroid lipofuscinosis
Next generation sequencing panel
Vision loss
Online Access:http://www.sciencedirect.com/science/article/pii/S2451993616300238

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http://www.sciencedirect.com/science/article/pii/S2451993616300238

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