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ISSN 2070-8718 (Print)

2012, Number 1

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Rev Cub Gen 2012; 6 (1)

Electroretinography phenotype in Retinitis Pigmentosa patients

Barrientos CAJ, Lantigua CA, Herrera MM, Sistachs VV, Sierra HM

Language: Spanish
References: 21
Page: 20-25
PDF size: 550.28 Kb.


ABSTRACT

In order to describe the electroretinography phenotype in retinitis pigmentosa patients and to determine its relationships with other clinical characteristics, as inheritance pattern and symptoms onset age, seventy four patients in stage I of the disease were studied and submitted to a standard electroretinogram. A statistical analysis carried out in order to study the associations between the electroretinogram and other variables produced the following results: 64 % of the patients showed a non-detectable electroretinogram, while 36 % showed a recordable one, while the most frequent electroretinographic patterns among patients with recorded electroretinograms were the rod-cone (63%), followed by the cone-rod one (22 %). All patients (100 %) with X-linked recessive retinitis pigmentosa had a non-detectable electroretinogram. The cone-rod pattern was associated with autosomal recessive patients, which was the most frequently found inheritance pattern followed by autosomal dominant and followed by X-linked recessive patterns. The electroretinogram for retinitis pigmentosa in stage I evidenced this is the first expression level of mutation of any of the hereditary types of the disease showing different degrees of influence dependent on the inheritance mode.


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