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Retinitis pigmentosa in mevalonate kinase deficiency
B Balgobind1, D Wittebol-Post, J Frenkel
1General Paediatrics, University Medical Center Utrecht, WKZ room KE 04 1331, Lundlaan 6, Utrecht, 3584A EA, The Netherlands.
Journal of Inherited Metabolic Disease
|January 26, 2006
Abstract:
Retinitis pigmentosa can occur as a complication of mevalonate kinase deficiency. This may be due to the unique isoprenoid metabolism in the retina. Early detection requires awareness on the part of the treating physician.
