BBS16/SDCCAG8 Research Papers - Academia.edu (original) (raw)

Cet article ne peut en aucun cas remplacer les informations données par une consultation chez un médecin spécialiste. Certains points peuvent en effet paraître obscurs au grand public ou être mal compris. Chaque patient étant un cas particulier nous recommandons aux patients qui présenteraient cette affection de s’adresser à leur médecin spécialiste qui seul peut établir un diagnostic et expliquer la maladie, sa forme et son évolution.

Bardet Biedl syndrome is a ciliopathy with multivisceral abnormalities, characterized by cone-rod dystrophy or rod-cone dystrophy, postaxial polydactyly, cognitive impairment, truncal obesity, renal malformation and hypogenitalism. The postaxial polydactyly is the most obvious external characteristic of the disease, already seen at birth. It is not always present and is not specific. Retinal dystrophy is constant but is not diagnosed immediately. There may be more or less severe forms with more or less early appearance. The retinal dystrophy is classically of the mixed rod-cone type. However, the macula may be involved in an early stage and the ERG will rather be of the cone-rod type.