Abstract

RODRIGUEZ HERNANDEZ, Mayra et al. Alterations in electroretinography of patients with Duchenne muscular dystrophy and their relationship with deletions of gene of the disease. Rev Cubana Oftalmol [online]. 1999, vol.12, n.2, pp. 0-0. ISSN 1561-3070.

Duchenne muscular dystrophy is the most common and serious of all muscular distropies affecting one in 3 500 males born live. The high frequency of reported alterations in electroretinographies of patients with Duchenne muscular dystrophy (DMD) proves that there is a possible relationship between the electrical activity of retina and the DMD gen mutations, a gen which codes for dystrophin protein responsible for DMD phenotype. The most common DMD gen mutation is deletions in 70 % of patients and they occured with a high heterogeneity as it happens in electro retinography; so we intended to compare these variables to find out whether thy are related. 22 patients with DMD clinical manifestations were studied from the molecular and electroretinographic viewpoints. Polymerase chain reaction technique was used to check 18 gen regions and the mesopic electroretinographic recording. 69 % of cases had deletions which varied in extension and location; 80 % of deletions was found in gen 3' extreme. ERG of negative type with marked reduction of B and A waves in normal lower limit or also decreased were predominant; b/a relation was under 1. This type of ERP was related to deletion (p=0,027) and its location in gen 3' extreme (p=0,03). The level of significance was 0,05, so we recommend the electroretinographic study as a way of strenghtening diagnosis and detecting the suspected deletion locus.

Keywords : MUSCULAR DYSTROPHY; ELECTRORETINOGRAPHY.

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