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.
Infantile Refsum disease is a disorder of peroxisomal function and is distinct from classic Refsum disease. Differentiation based on ophthalmic findings can be challenging, but when combined with knowledge of the systemic manifestations of presentation, the ophthalmologist can be instrumental in guiding further investigations and diagnosis.
Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada.
Reprint requests: Kaivon L. Pakzad-Vaezi, MD, Department of Ophthalmology and Visual Sciences, University of British Columbia, Room 306, 2550 Willow Street, Vancouver, BC V5Z 3N9, Canada; e-mail: firstname.lastname@example.org
None of the authors have any financial/conflicting interests to disclose.