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Congenital nystagmus and negative electroretinography
Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the...
Autores principales: | , , , |
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Formato: | Texto |
Lenguaje: | English |
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Dove Medical Press
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3090294/ https://www.ncbi.nlm.nih.gov/pubmed/21573087 http://dx.doi.org/10.2147/OPTH.S14291 |
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author | Roussi, Mirella Dalens, Hélène Marcellier, Jean Jacques Bacin, Franck |
author_facet | Roussi, Mirella Dalens, Hélène Marcellier, Jean Jacques Bacin, Franck |
author_sort | Roussi, Mirella |
collection | PubMed |
description | Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17–18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB). This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina. |
format | Text |
id | pubmed-3090294 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Dove Medical Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-30902942011-05-13 Congenital nystagmus and negative electroretinography Roussi, Mirella Dalens, Hélène Marcellier, Jean Jacques Bacin, Franck Clin Ophthalmol Case Report Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17–18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB). This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina. Dove Medical Press 2011 2011-04-06 /pmc/articles/PMC3090294/ /pubmed/21573087 http://dx.doi.org/10.2147/OPTH.S14291 Text en © 2011 Roussi et al, publisher and licensee Dove Medical Press Ltd. This is an Open Access article which permits unrestricted noncommercial use, provided the original work is properly cited. |
spellingShingle | Case Report Roussi, Mirella Dalens, Hélène Marcellier, Jean Jacques Bacin, Franck Congenital nystagmus and negative electroretinography |
title | Congenital nystagmus and negative electroretinography |
title_full | Congenital nystagmus and negative electroretinography |
title_fullStr | Congenital nystagmus and negative electroretinography |
title_full_unstemmed | Congenital nystagmus and negative electroretinography |
title_short | Congenital nystagmus and negative electroretinography |
title_sort | congenital nystagmus and negative electroretinography |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3090294/ https://www.ncbi.nlm.nih.gov/pubmed/21573087 http://dx.doi.org/10.2147/OPTH.S14291 |
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