Mutations in the Mevalonate Kinase (MVK) Gene Cause Nonsyndromic Retinitis Pigmentosa – Corrected Proof

Objective: Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disorder characterized by night blindness and peripheral vision loss, and in many cases leads to blindness. Despite extensive knowledge about genes involved in the pathogenesis of RP, the genetic cause remains elusive in many patients. In this study, we aimed to identify novel genes that are involved in the cause of RP.Design: We present a case series with mutations in the mevalonate kinase (MVK) gene.Participants: A total of 769 patients with nonsyndromic RP and 174 Dutch control individuals participated in this study.Methods: Exome sequencing analysis was performed in a proband (Read more...)

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