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Select item 26429161.

Mutations in NYX of individuals with high myopia, but without night blindness

Qingjiong Zhang, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Zhikuan Yang, Shizhou Huang, Rafael C. Caruso, Tianqin Guan, Yuri Sergeev, Xiangming Guo, J. Fielding Hejtmancik

Mol Vis. 2007; 13: 330–336. Published online 2007 Mar 1.

PMCID:: PMC2642916

Abstract Article PDF–359K

Select item 79394552.

GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone–rod dystrophy but not for stationary night blindness

Igor V. Peshenko, Elena V. Olshevskaya, Alexander M. Dizhoor

J Biol Chem. 2020 Dec 25; 295(52): 18301–18315. Published online 2021 Jan 13. doi: 10.1074/jbc.RA120.015553

PMCID:: PMC7939455

Abstract Article PDF–4.9M

Select item 28387393.

TRPM1 mutations are associated with the complete form of congenital stationary night blindness

Makoto Nakamura, Rikako Sanuki, Tetsuhiro R. Yasuma, Akishi Onishi, Koji M. Nishiguchi, Chieko Koike, Mikiko Kadowaki, Mineo Kondo, Yozo Miyake, Takahisa Furukawa

Mol Vis. 2010; 16: 425–437. Published online 2010 Mar 12.

PMCID:: PMC2838739

Abstract Article PDF–4.2M

Select item 79961804.

Optic Atrophy and Inner Retinal Thinning in CACNA1F-Related Congenital Stationary Night Blindness

Kate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, Isabelle Audo, Anupreet Tumber, Erika Tavares, Heather MacDonald, Jeff Locke, Cynthia VandenHoven, Christina Zeitz, Elise Heon, J Raymond Buncic, Ajoy Vincent

Genes (Basel) 2021 Mar; 12(3): 330. Published online 2021 Feb 25. doi: 10.3390/genes12030330

PMCID:: PMC7996180

Abstract Article PDF–7.6M

Select item 38055355.

Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse

Rebecca R. Bellone, Heather Holl, Vijayasaradhi Setaluri, Sulochana Devi, Nityanand Maddodi, Sheila Archer, Lynne Sandmeyer, Arne Ludwig, Daniel Foerster, Melanie Pruvost, Monika Reissmann, Ralf Bortfeldt, David L. Adelson, Sim Lin Lim, Janelle Nelson, Bianca Haase, Martina Engensteiner, Tosso Leeb, George Forsyth, Michael J. Mienaltowski, Padmanabhan Mahadevan, Michael Hofreiter, Johanna L. A. Paijmans, Gloria Gonzalez-Fortes, Bruce Grahn, Samantha A. Brooks

PLoS One. 2013; 8(10): e78280. Published online 2013 Oct 22. doi: 10.1371/journal.pone.0078280

PMCID:: PMC3805535

Abstract Article PDF–3.0M

Select item 27758336.

Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

Zheng Li, Panagiotis I. Sergouniotis, Michel Michaelides, Donna S. Mackay, Genevieve A. Wright, Sophie Devery, Anthony T. Moore, Graham E. Holder, Anthony G. Robson, Andrew R. Webster

Am J Hum Genet. 2009 Nov 13; 85(5): 711–719. doi: 10.1016/j.ajhg.2009.10.003

PMCID:: PMC2775833

Abstract Article PDF–1.3M

Select item 27758307.

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo, Susanne Kohl, Bart P. Leroy, Francis L. Munier, Xavier Guillonneau, Saddek Mohand-Saïd, Kinga Bujakowska, Emeline F. Nandrot, Birgit Lorenz, Markus Preising, Ulrich Kellner, Agnes B. Renner, Antje Bernd, Aline Antonio, Veselina Moskova-Doumanova, Marie-Elise Lancelot, Charlotte M. Poloschek, Isabelle Drumare, Sabine Defoort-Dhellemmes, Bernd Wissinger, Thierry Léveillard, Christian P. Hamel, Daniel F. Schorderet, Elfride De Baere, Wolfgang Berger, Samuel G. Jacobson, Eberhart Zrenner, José-Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz

Am J Hum Genet. 2009 Nov 13; 85(5): 720–729. doi: 10.1016/j.ajhg.2009.10.013

PMCID:: PMC2775830

Abstract Article PDF–760K

Select item 27758268.

Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness

Maria M. van Genderen, Mieke M.C. Bijveld, Yvonne B. Claassen, Ralph J. Florijn, Jillian N. Pearring, Francoise M. Meire, Maureen A. McCall, Frans C.C. Riemslag, Ronald G. Gregg, Arthur A.B. Bergen, Maarten Kamermans

Am J Hum Genet. 2009 Nov 13; 85(5): 730–736. doi: 10.1016/j.ajhg.2009.10.012

PMCID:: PMC2775826

Abstract Article PDF–1.0M

Select item 82240309.

Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients

Hyeong-Min Kim, Kwangsic Joo, Jinu Han, Se-Joon Woo

Genes (Basel) 2021 Jun; 12(6): 789. Published online 2021 May 21. doi: 10.3390/genes12060789

PMCID:: PMC8224030

Abstract Article PDF–29M

Select item 832538810.

Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness

Nancy Huynh, Brett G. Jeffrey, Amy Turriff, Paul A Sieving, Catherine A. Cukras

Ophthalmic Genet. Author manuscript; available in PMC 2021 Jul 31.

Published in final edited form as: Ophthalmic Genet. 2014 Mar; 35(1): 51–56. Published online 2014 Jan 7. doi: 10.3109/13816810.2013.865762

PMCID:: PMC8325388

Abstract Article PDF–566K

Select item 833935711.

Substantial restoration of night vision in adult mice with congenital stationary night blindness

Juliette Varin, Nassima Bouzidi, Gregory Gauvain, Corentin Joffrois, Melissa Desrosiers, Camille Robert, Miguel Miranda De Sousa Dias, Marion Neuillé, Christelle Michiels, Marco Nassisi, José-Alain Sahel, Serge Picaud, Isabelle Audo, Deniz Dalkara, Christina Zeitz

Mol Ther Methods Clin Dev. 2021 Sep 10; 22: 15–25. Published online 2021 May 21. doi: 10.1016/j.omtm.2021.05.008

PMCID:: PMC8339357

Abstract Article PDF–2.6M

Select item 837096912.

Cav1.4 dysfunction and congenital stationary night blindness type 2

Alexandra Koschak, Monica L. Fernandez-Quintero, Thomas Heigl, Marco Ruzza, Hartwig Seitter, Lucia Zanetti

Pflugers Arch. 2021; 473(9): 1437–1454. Published online 2021 Jul 1. doi: 10.1007/s00424-021-02570-x

PMCID:: PMC8370969

Abstract Article PDF–3.7M

Select item 384222613.

Electroretinographic findings in a patient with congenital stationary night blindness due to a novel NYX mutation

J. Jason McAnany, Kenneth R. Alexander, Nalin M. Kumar, Hongyu Ying, Anastasios Anastasakis, Gerald A. Fishman

Ophthalmic Genet. Author manuscript; available in PMC 2013 Nov 27.

Published in final edited form as: Ophthalmic Genet. 2013 Sep; 34(3): 10.3109/13816810.2012.743570. Published online 2013 Jan 4. doi: 10.3109/13816810.2012.743570

PMCID:: PMC3842226

Abstract Article PDF–480K

Select item 270288414.

Serum Retinol Binding Protein as an Indicator of Vitamin A Status in Cirrhotic Patients with Night Blindness

Khalid Mahmood, Akhtar H. Samo, Krishan L. Jairamani, Gohar Ali, Abu Talib, Waqar Qazmi

Saudi J Gastroenterol. 2008 Jan; 14(1): 7–11. doi: 10.4103/1319-3767.37794

PMCID:: PMC2702884

Abstract Article PDF–120K

Select item 269206315.

Risk factors for maternal night blindness in rural South India

Joanne Katz, James M. Tielsch, R. D. Thulasiraj, Christian Coles, S. Sheeladevi, Elizabeth L. Yanik, Lakshmi Rahmathullah

Ophthalmic Epidemiol. Author manuscript; available in PMC 2009 Nov 1.

Published in final edited form as: Ophthalmic Epidemiol. 2009; 16(3): 193–197. doi: 10.1080/09286580902863080

PMCID:: PMC2692063

Abstract Article PDF–51K

Select item 791179516.

A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness

Usman Mahmood, Cécile Méjécase, Syed M. A. Ali, Mariya Moosajee, Igor Kozak

Genes (Basel) 2021 Feb; 12(2): 171. Published online 2021 Jan 27. doi: 10.3390/genes12020171

PMCID:: PMC7911795

Abstract Article PDF–3.2M

Select item 593757517.

A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness

Christina Zeitz, Cécile Méjécase, Mathilde Stévenard, Christelle Michiels, Isabelle Audo, Michael F. Marmor

Biomed Res Int. 2018; 2018: 7694801. Published online 2018 Apr 23. doi: 10.1155/2018/7694801

PMCID:: PMC5937575

Abstract Article PDF–3.1M

Select item 593018518.

Unusual manifestation of vitamin A deficiency presenting with generalized xerosis without night blindness

Pariya Phanachet, Prapimporn Chattranukulchai Shantavasinkul, Pichika Chantrathammachart, Ploysyne Rattanakaemakorn, Kulapong Jayanama, Surat Komindr, Daruneewan Warodomwichit

Clin Case Rep. 2018 May; 6(5): 878–882. Published online 2018 Mar 13. doi: 10.1002/ccr3.1475

PMCID:: PMC5930185

Abstract Article PDF–345K

Select item 389777819.

Photoreceptor Degeneration in Two Mouse Models for Congenital Stationary Night Blindness Type 2

Hanna Regus-Leidig, Jenny Atorf, Andreas Feigenspan, Jan Kremers, Marion A. Maw, Johann Helmut Brandstätter

PLoS One. 2014; 9(1): e86769. Published online 2014 Jan 21. doi: 10.1371/journal.pone.0086769

PMCID:: PMC3897778

Abstract Article PDF–12M

Select item 251606420.

Differential Gene Expression of TRPM1, the Potential Cause of Congenital Stationary Night Blindness and Coat Spotting Patterns (LP) in the Appaloosa Horse (Equus caballus)

Rebecca R. Bellone, Samantha A. Brooks, Lynne Sandmeyer, Barbara A. Murphy, George Forsyth, Sheila Archer, Ernest Bailey, Bruce Grahn

Genetics. 2008 Aug; 179(4): 1861–1870. doi: 10.1534/genetics.108.088807

PMCID:: PMC2516064

Abstract Article PDF–584K

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