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Retinitis Pigmentosa Caused By Mutations in the Ciliary MAK Gene is Relatively Mild and is not Associated with Apparent Extra-Ocular Features

van Huet, Ramon A. C.; Siemiatkowska, Anna M.; Ozgul, Riza K.; Yucel, Didem; Hoyng, Carel B.; Banin, Eyal; Blumenfeld, Anat; Rotenstreich, Ygal; Riemslag, Frans C. C.; den Hollander, Anneke I.; Theelen, Thomas; Collin, Rob W. J.; van den Born, L. Ingeborgh; Klevering, B. Jeroen (Wiley, 2015)

Purpose: Defects in MAK, encoding a protein localized to the photoreceptor connecting cilium, have recently been associated with autosomal recessive retinitis pigmentosa (RP). The aim of this study is to describe our ...