Inborn Errors of Metabolism: Refsum Disease
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1085)
Patient with Refsum disease present with nyctalopia, and the fundus shows progressive panretinal degeneration. Vision gradually decreases, with progressive peripheral constriction. The pupil usually does not dilate well.
KeywordsInborn errors of metabolism Refsum disease
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