Inborn Errors of Metabolism: Refsum Disease.
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DOI: 10.1007/978-3-319-95046-4_39
Abstract: 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. read more here.
Keywords: metabolism refsum; errors metabolism; disease; biology ... See more keywords