Korean Journal of Ophthalmology

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Congenital Stationary Night Blindness due to Novel TRPM1 Gene Mutations in a Korean Patient

Yun Jeong Lee, Kwangsic Joo, Moon-Woo Seong, Kyu Hyung Park, Sung Sup Park, Se Joon Woo

Korean J Ophthalmol. 2020;34(2):170-172. Published online March 16, 2020
DOI: https://doi.org/10.3341/kjo.2019.0080

Congenital Stationary Night Blindness due to Novel TRPM1 Gene Mutations in a Korean Patient

Yun Jeong Lee, Kwangsic Joo, Moon-Woo Seong, Kyu Hyung Park, Sung Sup Park, Se Joon Woo

Korean Journal of Ophthalmology. 2020;34(2):170

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TRPM1 and Congenital Stationary Night Blindness

Shoichi Irie, Takahisa Furukawa

Pathologies of Calcium Channels. 2013;317-331

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Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness

Takaaki Hayashi, Kei Mizobuchi, Shinsuke Kikuchi, Tadashi Nakano

Documenta Ophthalmologica. 2020;142(2):265-273

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Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness

Shuzhen Dai, Ming Ying, Kai Wang, Liming Wang, Ruifang Han, Peng Hao, Ningdong Li

Scientific Reports. 2015;5(1):

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CABP4 Mutations Do Not Cause Congenital Stationary Night Blindness

Arif O. Khan

Ophthalmology. 2014;121(3):e15

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TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations

Alaa AlTalbishi, Lina Zelinger, Christina Zeitz, Karen Hendler, Prasanthi Namburi, Isabelle Audo, Ruth Sheffer, Claudia Yahalom, Samer Khateb, Eyal Banin, Dror Sharon

Scientific Reports. 2019;9(1):

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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

The American Journal of Human Genetics. 2009;85(5):711-719

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Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness

Alessandra Mihalich, Gabriella Cammarata, Gemma Tremolada, Marzia Pollazzon, Anna Maria Di Blasio, Stefania Bianchi Marzoli

Experimental Eye Research. 2022;221:109143

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Incomplete X-linked congenital stationary night blindness: Characterization of mutations in the CACNAIF gene and an assessment of clinical variability

K.M. Boycott, W.G. Pearce, N.T. Bech-Hansen

Genetics in Medicine. 1999;1(2):72

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Congenital stationary night blindness

Marianne Haim

Acta Ophthalmologica. 2009;64(2):192-198

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