Document Detail

Is optic nerve fibre mis-routing a feature of congenital stationary night blindness?
MedLine Citation:
PMID:  16523234     Owner:  NLM     Status:  MEDLINE    
PURPOSE: To determine whether patients with congenital stationary night blindness (CSNB) have electrophysiological evidence of optic nerve fibre mis-routing similar to that found in patients with ocular albinism (OA). METHOD: We recorded the Pattern Onset VEP using a protocol optimised to detect mis-routing of optic nerve fibres in older children and adults. We tested 20 patients (age 15-69 yrs) with X-linked or autosomal recessive CSNB, 14 patients (age 9-56 yrs) with OA and 13 normally pigmented volunteers (age 21-66 yrs). We measured the amplitude and latency of the CI component at the occipital midline and over left and right occipital hemispheres. We also assessed the computed inter-hemispheric "difference" signal. Subjects with CSNB were classified as having the "complete" or "incomplete" phenotype on the basis of their ERG characteristics. Members of X-linked CSNB pedigrees underwent mutation screening of the NYX and CACNA1F genes. RESULTS: CI was significantly smaller over the ipsilateral hemisphere and more prominent over the contralateral hemisphere in OA patients compared with both controls and CSNB patients. In CSNB patients CI response amplitudes were not significantly different from controls but peak latency was prolonged at all three electrodes compared with controls. The inter-hemispheric "difference" signal was abnormal for the OA group but not for the CSNB group. Contralateral dominance of CI could be identified in the majority of OA patients and the "difference" signal was opposite in polarity for left compared with right eye stimulation in every patient in this group. Only 3 of 20 patients with CSNB showed significant inter-hemispheric asymmetry similar to that seen in the OA patients. All 3 CSNB patients with evidence for optic nerve fibre mis-routing had X-linked pedigrees: 2 had an identified mutation in the NYX gene but no mutation in either the NYX or CACNA1F genes was identified in the third. VEP evidence of optic nerve fibre mis-routing was present in 3 of the 11 subjects with "complete" phenotype and none of the 9 patients with "incomplete" phenotype CSNB. CONCLUSION: Mis-routing of optic nerve fibres does occur in CSNB but we found evidence of it in only 15% of our patients.
T Ung; L E Allen; A T Moore; D Trump; I Zito; A J Hardcastle; J Yates; K Bradshaw
Related Documents :
1315474 - A clinical, electrophysiological, morphological and immunological study of chronic sens...
20393864 - Clinical manifestations of neurological involvement in primary sjögren’s syndrome.
16107364 - A practical definition of conduction block in ivig responsive multifocal motor neuropathy.
2158414 - Polyneuropathy: potential cause of difficult weaning.
12588934 - Repetitive stimulation of the long thoracic nerve in myasthenia gravis: clinical and el...
20480164 - A fatal case of acute exacerbation of interstitial lung disease in a patient with rheum...
Publication Detail:
Type:  Comparative Study; Journal Article     Date:  2006-03-06
Journal Detail:
Title:  Documenta ophthalmologica. Advances in ophthalmology     Volume:  111     ISSN:  0012-4486     ISO Abbreviation:  Doc Ophthalmol     Publication Date:  2005 Nov 
Date Detail:
Created Date:  2006-03-08     Completed Date:  2006-07-11     Revised Date:  2007-01-05    
Medline Journal Info:
Nlm Unique ID:  0370667     Medline TA:  Doc Ophthalmol     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  169-78     Citation Subset:  IM    
Ophthalmology Department, Addenbrooke's Hospital, Cambridge, CB2 2QQ, UK.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Evoked Potentials, Visual*
Middle Aged
Nerve Fibers / physiology*
Night Blindness / congenital*,  diagnosis*
Optic Nerve / physiopathology*
Severity of Illness Index
Erratum In:
Doc Ophthalmol. 2006 May;112(3):219
Note: Zito, I [added]; Hardcastle, A J]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Intertest variability of mfVEP amplitude: reducing its effect on the interpretation of sequential te...
Next Document:  ERG components of negative polarity from the inner retina and the optic nerve response.