REFSUM's DISEASE

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Abstract
The cardinal eye symptoms of Refsum''s disease are night blindness, retinal pigmentary degeneration and constriction of the visual fields. Similarities with retinitis pigmentosa are discussed. A 39 yr old male had manifestations of Refsum''s disease from 7 yr old and was on a low phytol low phytanic acid diet for the last 13 yr. Peripheral ring scotomas were present. Some reduction of the visual fields was recorded, but only in the far periphery. The central field was not significantly constricted during a 7 yr period. Very good visual functions were found within this area. All cone mechanisms were functioning at a normal level. A moderately reduced sensitivity level of the rod mechanism was explained in a great measure by poor pupillary dilation in the dark. In this patient minimal or no progression of the visual disease was apparent. There is little resemblance with ordinary retinitis pigmentosa, which may be an effect of treatment. ERG [electroretinogram] showed moderate abnormality. Normal conducting time was found by VER [visual evoked response]. With fluorescein angiography a central area of normal appearance was sharply outlined in contrast to marked degenerations in paracentral regions.