Abstract
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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.
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Pakzad-Vaezi KL, Maberley DA. Infantile Refsum disease in a young adult: case presentation and brief review. Retin Cases Brief Rep. 2014;8:56–9.
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Tsang, S.H., Sharma, T. (2018). Inborn Errors of Metabolism: Refsum Disease. In: Tsang, S., Sharma, T. (eds) Atlas of Inherited Retinal Diseases. Advances in Experimental Medicine and Biology, vol 1085. Springer, Cham. https://doi.org/10.1007/978-3-319-95046-4_39
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DOI: https://doi.org/10.1007/978-3-319-95046-4_39
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