Linked Life Data

9775220

Source:http://linkedlifedata.com/resource/pubmed/id/9775220

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
1998-10-29
pubmed:abstractText
The neuronal ceroid lipofuscinoses (NCL) are neurodegenerative disorders with psychomotor deterioration, seizures, visual failure and premature death, all associated with abnormal storage of lipoproteins within lysosomes. The most common forms of NCL are an infantile form (INCL, CLN1), a late infantile form (LINCL, CLN2) and a juvenile onset form (JNCL, CLN3). The electroretinogram (ERG) is abnormal early in all three of these forms and eventually is totally ablated. The purpose of this report is to describe the ERG in INCL, LINCL and JNCL. The ERGs of 7 patients who were examined by the author over the past 15 years were reviewed. Ganzfeld ERG responses were recorded using the ISCEV standard protocol and an intensity response series over a 3.7 log unit range. The earliest ERG manifestation of INCL is a marked loss of the scotopic and photopic b-wave with relative preservation of the a-wave; this defect, which was evident for both rods and cones, suggests preservation of photoreceptor outer segment function with severe disturbance of transmission of the signal to the second-order neuron, the bipolar cells. For LINCL, the rod responses were mildly abnormal but more preserved than in INCL or JNCL. The cone b-wave amplitudes in patients with early LINCL were severely subnormal with prolonged implicit times. Patients with JNCL invariably showed severe to profound ERG abnormalities when first tested, with essentially no rod-mediated activity and marked loss of a-wave amplitudes with even greater loss of b-wave amplitudes, creating electronegative configuration waveforms. Differences in the ERG responses were thus found that provide further clues to the earliest site of pathology within the retina.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0950-222X
pubmed:author
pubmed:issnType
Print
pubmed:volume
12 ( Pt 3b)
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
580-90
pubmed:dateRevised
2009-11-3
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses.
pubmed:affiliation
Oregon Health Sciences University, Casey Eye Institute, Portland 97201-4197, USA. weleberr@ohsu.edu
pubmed:publicationType
Journal Article, Review, Case Reports, Research Support, Non-U.S. Gov't