Midlife diagnosis of Refsum Disease in siblings with Retinitis Pigmentosa - The footprint is the clue: A case report

Introduction: Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations. Case presentation: We present the cases of two brothers with a diagnosis of retinitis pigmentosa from childhood...

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Bibliographic Details
Main Authors: Jayaram, H, Downes, S
Format: Journal article
Language:English
Published: 2008