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Manifestations ophtalmologiques de la maladie de Refsum infantile: à propos de trois cas.

par Van der Maren, V;Cordonnier, Monique ;Van Maldergem, Lionel;Van Nechel, Christian
Référence Bulletin de la Société belge d'ophtalmologie, 250, page (79-84)
Publication Publié, 1993

Article révisé par les pairs

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Résumé :

We describe the ophthalmic manifestations of 3 cases of infantile Refsum's disease. The gravity and the aspect of the retinal disorders which we have observed by ophthalmoscopy and electroretinography were quite different from one case to another, including two siblings. We then go on to discuss the pathogeny and the genetic basis of diseases due to a deficiency of the peroxisomal biogenesis.