Infantile Refsum disease in a young adult: case presentation and brief review.
OBJECTIVE
To review and describe findings, pathophysiology, and management of infantile Refsum disease in a young adult, and to compare with those of classic Refsum Disease.


METHODS
Retrospective chart and digital photography review.


RESULTS
A 25-year-old woman with a diagnosis of infantile Refsum disease presented with progressively decreasing vision. Findings included a noncorpuscular pigmentary degeneration of both fundi, optic nerve head drusen, attenuated retinal vasculature, cataract, myopia, and esotropia. She was treated with a low phytanic acid diet, resulting in improved metabolic values on laboratory testing.


CONCLUSIONS
Infantile Refsum disease has clinical features and a pathophysiology distinct from classic Refsum disease, despite occasionally presenting for examination later in life. Ophthalmic and systemic distinctions between the two are important to consider for the ophthalmologist, who may be involved in the initial diagnosis of the patient.
Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada.
Kaivon L
KL
Pakzad-Vaezi
David A L
DA
Maberley
D000328:Adult; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000209:etiology*; D005260:Female; D006801:Humans; D010831:Phytanic Acid / Q000097:blood; D012035:Refsum Disease / Q000175:diagnosis; D052919:Refsum Disease, Infantile / Q000150:complications* / Q000175:diagnosis; D012189:Retrospective Studies; D014786:Vision Disorders / Q000209:etiology*
D010831:Phytanic Acid