Alejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, Elfride B W De Baere, Thomy de Ravel, Sandro Banfi, Susanne Kohl, Carmen Ayuso, Dror Sharon, Carel B Hoyng, Christian P Hamel, Bart P Leroy, Carmela Ziviello, Irma Lopez, Alexandre Bazinet, Bernd Wissinger, Ieva Sliesoraityte, Almudena Avila-Fernandez, Karin W Littink, Enzo M Vingolo, Sabrina Signorini, Eyal Banin, Liliana Mizrahi-Meissonnier, Eberhard Zrenner, Ulrich Kellner, Rob W J Collin, Anneke I den Hollander, Frans P M Cremers, B Jeroen Klevering
OBJECTIVE: To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP). METHODS: Homozygosity mapping of a patient with isolated RP was followed by BBS1 sequence analysis. We performed restriction fragment length polymorphism analysis of the p.M390R allele in 2007 patients with isolated RP or autosomal recessive RP and in 1824 ethnically matched controls. Patients with 2 BBS1 variants underwent extensive clinical and ophthalmologic assessment...
November 2012: Archives of Ophthalmology