INTRAFAMILIAL POLYMORPHOUS PRESENTATIONS IN PATTERN DYSTROPHIES OF THE RETINAL-PIGMENT EPITHELIUM

The authors report the observation of a family with different dystroph ies of the retinal pigment epithelium : a macroreticular dystrophy (1 case), a butterfly-shaped dystrophy (1 case), a butterfly-shaped or a macroreticular dystrophy associated with vitelliform lesion (3 cases), and hard drusen (2 cases). The association of pattern dystrophies and vitelliform lesions was described in some families or subjects in pre vious reports. The different fundoscopic aspects could constitute the same autosomal dominant dystrophy with variable expressivity. The pres ence, in this family, of two cases of probably inherited drusen could reflect the similarity of this disease with the other autosomal domina nt dystrophies of the retinal pigment epithelium. Further biological s tudies should be performed to identify the pathogenesis of these disea ses and will allow clearer classification.