Publication: TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness
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Audo, I., Kohl, S., Leroy, B. P., Munier, F. L., Guillonneau, X., Mohand-Saïd, S., Bujakowska, K., Nandrot, E. F., Lorenz, B., Preising, M., Kellner, U., Renner, A. B., Bernd, A., Antonio, A., Moskova-Doumanova, V., Lancelot, M. E., Poloschek, C. M., Drumare, I., Defoort-Dhellemmes, S., … Zeitz, C. (2009). TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. American Journal of Human Genetics, 85, 720–729. https://doi.org/10.1016/j.ajhg.2009.10.013
Abstract
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Abstract
Night vision requires signaling from rod photoreceptors to adjacent bipolar cells in the retina. Mutations in the genes NYX and GRM6, expressed in ON bipolar cells, lead to a disruption of the ON bipolar cell response. This dysfunction is present in patients with complete X-linked and autosomal-recessive congenital stationary night blindness (CSNB) and can be assessed by standard full-field electroretinography (ERG), showing severely reduced rod b-wave amplitude and slightly altered cone responses. Although many cases of complete CSNB
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Creators (Authors)
- Audo, I
- Kohl, S
- Leroy, B P
- Munier, F L
- Guillonneau, X
- Mohand-Saïd, S
- Bujakowska, K
- Nandrot, E F
- Lorenz, B
- Preising, M
- Kellner, U
- Renner, A B
- Bernd, A
- Antonio, A
- Moskova-Doumanova, V
- Lancelot, M E
- Poloschek, C M
- Drumare, I
- Defoort-Dhellemmes, S
- Wissinger, B
- Léveillard, T
- Hamel, C P
- Schorderet, D F
- De Baere, E
- Berger, W
- Jacobson, S G
- Zrenner, E
- Sahel, J A
- Bhattacharya, S S
- Zeitz, C
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Audo, I., Kohl, S., Leroy, B. P., Munier, F. L., Guillonneau, X., Mohand-Saïd, S., Bujakowska, K., Nandrot, E. F., Lorenz, B., Preising, M., Kellner, U., Renner, A. B., Bernd, A., Antonio, A., Moskova-Doumanova, V., Lancelot, M. E., Poloschek, C. M., Drumare, I., Defoort-Dhellemmes, S., … Zeitz, C. (2009). TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. American Journal of Human Genetics, 85, 720–729. https://doi.org/10.1016/j.ajhg.2009.10.013
