Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

doi:10.1016/j.ajhg.2011.12.007

Article

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

American journal of human genetics - 10 Feb 2012

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

Abstract excerpt

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 affected...

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Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

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