[Retinopathy in Zellweger's cerebrohepatorenal syndrome. The electrophysiological aspects]

There were described recently three biochemical forms of cerebral hepato-renal Zellweger syndrome: hyperpipécolique acidemia; neonatal adrenal leukodystrophy; infantile Refsum malady. These three biochemical forms present similar clinical manifestations. We studied three children with Zellweger (ZS) syndrome at that we established the absence of peroxisomes and an augmentation of pipécolique acid and biliary acids by blood. The children present typical clinical manifestations with retinopathy by pigmented type and ERG with very decreased or abolished amplitude and decreased PEV with prolonged latent time. It is discussed the importance of the constant affection of retinal.