ABSTRACT: The authors report the observation of a family with different dystrophies 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 previous reports. The different fundoscopic aspects could constitute the same autosomal dominant dystrophy with variable expressivity. The presence, in this family, of two cases of probably inherited drusen could reflect the similarity of this disease with the other autosomal dominant dystrophies of the retinal pigment epithelium. Further biological studies should be performed to identify the pathogenesis of these diseases and will allow clearer classification.
Journal Français d Ophtalmologie 02/1994; 17(4):242-51. · 0.51 Impact Factor