LONGITUDINAL-STUDY OF THE EARLY ELECTRORETINOGRAPHIC CHANGES IN ALSTROMS SYNDROME

We obtained serial electroretinograms in four patients aged between 6 months and 5 years with Alstrom's syndrome and studied the early stage s of the severe retinopathy that is characteristic of that disease. Th e weak electroretinographic signals found at age 6 months demonstrate a severe early cone dysfunction; one year later the cone activity is u ndetectable. The rod component of the electroretinogram is initially n ormal but can rapidly deteriorate to become undetectable as early as 5 years of age. These unusual electroretinographic findings are pathogn omonic of Alstrom's syndrome and different from other cone-rod dystrop hies or other syndromes with similar phenotypes such as Bardet-Biedl, Laurence-Moon, and Cohen syndromes.