Retinitis pigmentosa in mevalonate kinase deficiency.

J Inherit Metab Dis

General Paediatrics, University Medical Center Utrecht, WKZ room KE 04 1331, Lundlaan 6, Utrecht, 3584A EA, The Netherlands.

Published: July 2006

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.

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Source
http://dx.doi.org/10.1007/s10545-005-0178-7DOI Listing

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