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Retinal Function in Mucolipidosis IV

Retinal Function in Mucolipidosis IV In an 18-month-old girl affected by mucolipidosis IV (ML IV) with mild corneal clouding, normal retinal activity was documented by electroretinogram (ERG) and slightly delayed optic pathway conduction was revealed by visual evoked potential (VEP). Re-examination 9 years later disclosed severe retinal alterations resulting in atrophy with reduced photopic and missing scotopic ERG components and flat VEP. These fundoscopic and electrophysiologic deteriorations in ML IV suggest progressive rod-cone impairment similar to tapetoretinal dystrophy. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Ophthalmologica Karger

Retinal Function in Mucolipidosis IV

Abraham, F.A.; Brand, N.; Blumenthal, M.; Merin, S.
Ophthalmologica , Volume 191 (4): 5 – Jan 1, 2010
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Publisher
Karger
Copyright
© 1985 S. Karger AG, Basel
ISSN
0030-3755
eISSN
1423-0267
DOI
10.1159/000309589
Publisher site
See Article on Publisher Site

Abstract

In an 18-month-old girl affected by mucolipidosis IV (ML IV) with mild corneal clouding, normal retinal activity was documented by electroretinogram (ERG) and slightly delayed optic pathway conduction was revealed by visual evoked potential (VEP). Re-examination 9 years later disclosed severe retinal alterations resulting in atrophy with reduced photopic and missing scotopic ERG components and flat VEP. These fundoscopic and electrophysiologic deteriorations in ML IV suggest progressive rod-cone impairment similar to tapetoretinal dystrophy.

Journal

Ophthalmologica – Karger

Published: Jan 1, 2010

Keywords: Mucolipidosis IV; Electroretinogram; Visual evoked potential; Retinal dystrophy

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