Congenital stationary night blindness
Definition:
References:
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[1]. Ajoy Vincent, et al. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. Am J Hum Genet. 2016 May 5;98(5):1011-1019. [Content Brief]
[2]. Akio Oishi, et al. Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease. Am J Ophthalmol. 2007 Sep;144(3):475-7. [Content Brief]
[3]. Christina Zeitz, et al. Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2013 Jan 10;92(1):67-75. [Content Brief]
[4]. Isabelle Audo, et al. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10;90(2):321-30. [Content Brief]
[5]. Maria M van Genderen, et al. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am J Hum Genet. 2009 Nov;85(5):730-6. [Content Brief]
[6]. Royce W S Chen, et al. Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa. Am J Ophthalmol. 2012 Jan;153(1):143-54.e2. [Content Brief]
[7]. S Amer Riazuddin, et al. A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Am J Hum Genet. 2010 Oct 8;87(4):523-31. [Content Brief]
[8]. S Fuchs, et al. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. Nat Genet. 1995 Jul;10(3):360-2. [Content Brief]
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