Journal of Clinical and Experimental Ophthalmology
Open Access
ISSN: 2155-9570
ISSN: 2155-9570
Isabelle Audo
France
Research Article
Patients with Retinitis Pigmentosa due to RP1 Mutations Show Greater Severity in Recessive than in Dominant Cases
Author(s): Estèle Lafont, Gaël Manes, Audrey Sénéchal, Béatrice Bocquet, Delphine Coustès-Chazalette, Corinne Baudoin, Mohamed Ksantini, Jérôme Bourien, Aurore Devos, Hélène Dollfus, Xavier Zanlonghi, Isabelle Meunier, Claire-Marie Dhaenens, Christian P. Hamel, Isabelle Audo, Francine Behar-Cohen, Sabine Defoort-Dhellemmes, Jean-Louis Dufier, Hubert Journel, Josseline Kaplan, Guylène Le Meur, Saddek Mohand-Saïd, Sylvie Odent, Valérie Pelletier, Bernard Puech, Jean-Michel Rozet, José Alain Sahel, Michel Weber and Christina ZeitzEstèle Lafont, Gaël Manes, Audrey Sénéchal, Béatrice Bocquet, Delphine Coustès-Chazalette, Corinne Baudoin, Mohamed Ksantini, Jérôme Bourien, Aurore Devos, Hélène Dollfus, Xavier Zanlonghi, Isabelle Meunier, Claire-Marie Dhaenens, Christian P. Hamel, Isabelle Audo, Francine Behar-Cohen, Sabine Defoort-Dhellemmes, Jean-Louis Dufier, Hubert Journel, Josseline Kaplan, Guylène Le Meur, Saddek Mohand-Saïd, Sylvie Odent, Valérie Pelletier, Bernard Puech, Jean-Michel Rozet, José Alain Sahel, Michel Weber and Christina Zeitz
Study background: RP1 is a major gene for autosomal dominant retinitis pigmentosa and was reported in a few recessive families. Taken together, patients with RP1 mutations of both types of inheritance show a large spectrum in the severity of the disease. To get better insight in these clinical variations, patients with dominant and recessive retinitis pigmentosa due to RP1 mutations were investigated and their clinical features were compared.
Methods: RP1 exons 2 and 3 were sequenced in 324 unrelated patients with presumed recessive retinitis pigmentosa (213 simplex, 68 multiplex) or cone rod dystrophy (27 simplex, 16 multiplex) and RP1 exon 4 hot spot (nt 1500-3216) was sequenced in 174 probands with dominant retinitis pigmentosa. Visual acuity and visual field were correlated with age using Pearson’s .. View More»