Article
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.
Ophthalmology - 1 Dec 2013
Siemiatkowska Anna M, van den Born L Ingeborgh, van Hagen P Martin, Stoffels Monique, Neveling Kornelia, Henkes Arjen, Kipping-Geertsema Mieke, Hoefsloot Lies H, Hoyng Carel B, Simon Anna, den Hollander Anneke I, Cremers Frans P M, Collin Rob W J
Abstract excerpt
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...
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