Table 7.

Recommended Surveillance for Individuals with Adult Refsum Disease

System/ConcernEvaluationFrequency
↑ phytanic acid
levels
Plasma phytanic acid levelEvery 3-6 mos; more frequently during illnesses or ↑ stress that may → a catabolic state
Ophthalmologic
concerns
Ophthalmic exam to:
  • Identify vision loss from cataracts
  • Quantify extent of visual loss from RP (rod-cone dystrophy) w/visual fields & electroretinography where & when suitable
Annually
Cardiomyopathy Cardiac eval to identify cardiomyopathy & concomitant arrhythmias

RP = retinitis pigmentosa

From: Adult Refsum Disease

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