Skip Navigation LinksHome > Winter 2014 - Volume 8 - Issue 1 > INFANTILE REFSUM DISEASE IN A YOUNG ADULT: CASE PRESENTATIO...
RETINAL Cases & Brief Reports:
doi: 10.1097/ICB.0000000000000004
Case Report

INFANTILE REFSUM DISEASE IN A YOUNG ADULT: CASE PRESENTATION AND BRIEF REVIEW

Pakzad-Vaezi, Kaivon L. MD; Maberley, David A. L. MD, MSc

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Abstract

Purpose: 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.

Conclusion: 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.

© 2014 by Ophthalmic Communications Society, Inc.

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