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Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Audo, Isabelle ; Bujakowska, Kinga ; Orhan, Elise ; Poloschek, Charlotte M. ; Defoort-Dhellemmes, Sabine ; Drumare, Isabelle ; Kohl, Susanne ; Luu, Tien D. ; Lecompte, Odile ; Zrenner, Eberhart ; Lancelot, Marie-Elise ; Antonio, Aline ; Germain, Aurore ; Michiels, Christelle ; Audier, Claire ; Letexier, Mélanie ; Saraiva, Jean-Paul ; Leroy, Bart P. ; Munier, Francis L. ; Mohand-Saïd, Saddek ; Lorenz, Birgit ; Friedburg, Christoph ; Preising, Markus ; Kellner, Ulrich ; Renner, Agnes B. ; Moskova-Doumanova, Veselina ; Berger, Wolfgang ; Wissinger, Bernd ; Hamel, Christian P. ; Schorderet, Daniel F. ; De Baere, Elfride ; Sharon, Dror ; Banin, Eyal ; Jacobson, Samuel G. ; Bonneau, Dominique ; Zanlonghi, Xavier ; Le Meur, Guylene ; Casteels, Ingele ; Koenekoop, Robert ; Long, Vernon W. ; Meire, Francoise ; Prescott, Katrina ; de Ravel, Thomy ; Simmons, Ian ; Nguyen, Hoan ; Dollfus, Hélène ; Poch, Olivier ; Léveillard, Thierry ; Nguyen-Ba-Charvet, Kim ; Sahel, José-Alain ; Bhattacharya, Shomi S. ; Zeitz, Christina



Zusammenfassung

Congenital stationary night blindness (CSNB) is a heterogeneous retinal disorder characterized by visual impairment under low light conditions. This disorder is due to a signal transmission defect from rod photoreceptors to adjacent bipolar cells in the retina. Two forms can be distinguished clinically, complete CSNB (cCSNB) or incomplete CSNB; the two forms are distinguished on the basis of the ...

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