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By Amelogenesis Imperfecta, Bozena Polok, Pascal Escher, Aude Ambresin, Eliane Chouery, Sylvain Bolay and Daniel F. Schorderet


a complete physical evaluation, including best-vision and fundus evaluation and dental inspection. The protocol of the study adhered to the provisions of the Declaration of Helsinki. Family A, originating from Kosovo, is a two-generation family with no history of consanguinity that was assessed at the Jules-Gonin Eye Hospital because two of the five Society for Clinical Electrophysiology of Vision (ISCEV) were nonrecordable. Under scotopic conditions, b-wave amplitudes were markedly reduced in patient II.1 and severely reduced in patient II.4. A slightly delayed culmina-tion time of the b-wave was observed in both patients. During the 7 year follow up of patient II.1, the remaining scotopic b-wave dropped by 40 % of the lower limit for the age. At the same time, both children were followe

Year: 2014
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