| 1 | CACNA1F, CSNB2A
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| Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F.
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| Abdelkader E, AlHilali S, Neuhaus C, Bergmann C, AlMurshed T, Schatz P.
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| Ophthalmic Genet 39(5):659-661. doi: 10.1080/13816810.2018.1498526. Epub 2018 Aug 1. No abstract available.
2018
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| 2 | CACNA1F, CSNB2A
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| Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A).
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| Waldner DM, Giraldo Sierra NC, Bonfield S, Nguyen L, Dimopoulos IS, Sauvé Y, Stell WK, Bech-Hansen NT.
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| Channels (Austin) 12(1):17-33. doi: 10.1080/19336950.2017.1401688. Epub 2018 Jan 2.
2018
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| 3 | CACNA1F, CSNB2A
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| Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.
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| Burtscher V, Schicker K, Novikova E, Pöhn B, Stockner T, Kugler C, Singh A, Zeitz C, Lancelot ME, Audo I, Leroy BP, Freissmuth M, Herzig S, Matthes J, Koschak A.
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| Biochim Biophys Acta 1838(8):2053-65. doi: 10.1016/j.bbamem.2014.04.023. Epub 2014 May 4.
2014
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| 4 | CSNB1A, CSNB1B, CSNB1C, CSNB1E, CSNB2A, CSNB2B, GPR179, RCD4
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| Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness.
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| Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C.
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| Am J Hum Genet 90(2):321-30. 2012
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| 5 | ACHM2, ACHM3, ACHM4, CABP4, CACNA1F, CNGA3, CNGB3, CRSD, CSNB10, CSNB1A, CSNB1B, CSNB2A, CSNB2B, ESCS, GNAT2, GRM6, NR2E3, NYX
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| Molecular genetics of infantile-onset retinal dystrophies.
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| Moradi P, Moore AT.
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| Eye 21(10):1344-51. 2007
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| 6 | CSNB1A, CSNB2A
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| Multifocal oscillatory potentials in CSNB1 and CSNB2 type congenital stationary night blindness.
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| Schuster A, Pusch CM, Gamer D, Apfelstedt-Sylla E, Zrenner E, Kurtenbach A.
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| Int J Mol Med 15(1):159-67. 2005
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| 7 | CACNA1F, CSNB2A
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| Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.
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| Mansergh F, Orton NC, Vessey JP, Lalonde MR, Stell WK, Tremblay F, Barnes S, Rancourt DE, Bech-Hansen NT.
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| Hum Mol Genet 14(20):3035-46. Epub 2005 Sep 9. 2005
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| 8 | CACNA1F, CSNB2A
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| Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels.
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| Hoda JC, Zaghetto F, Koschak A, Striessnig J.
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| J Neurosci 25(1):252-9. 2005
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| 9 | CACNA1F, CSNB2A
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| A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.
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| Hemara-Wahanui A, Berjukow S, Hope CI, Dearden PK, Wu SB, Wilson-Wheeler J, Sharp DM, Lundon-Treweek P, Clover GM, Hoda JC, Striessnig J, Marksteiner R, Hering S, Maw MA.
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| Proc Natl Acad Sci U S A 102(21):7553-8. Epub 2005 May 16. 2005
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| 10 | CACNA1F, CSNB2A
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| The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution.
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| McRory JE, Hamid J, Doering CJ, Garcia E, Parker R, Hamming K, Chen L, Hildebrand M, Beedle AM, Feldcamp L, Zamponi GW, Snutch TP.
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| J Neurosci 24(7):1707-18. 2004
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| 11 | CACNA1F, CSNB2A
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| Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family.
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| Nakamura M, Ito S, Piao CH, Terasaki H, Miyake Y.
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| Arch Ophthalmol 121(7):1028-33. 2003
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| 12 | CACNA1F, CSNB2A
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| A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.
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| Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT.
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| Hum Genet 108(2):91-7. 2001
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| 13 | CSNB1A, CSNB2A
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| Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.
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| Boycott KM, et al.
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| Am J Hum Genet 62 : 865-875. 1998
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| 14 | CACNA1F, CSNB2A
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| Loss-of-function mutations in a calcium-channel alpha 1 -subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
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| Bech-Hansen NT, et al.
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| Nat Genet 19 : 264-267. 1998
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| 15 | CACNA1F, CSNB2A
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| An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
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| Strom TM, et al.
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| Nat Genet 19 : 260-263. 1998
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| 16 | CSNB2A
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| Localization of a gene for incomplete X-lined congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23.
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| Bech-Hansen NT, et al.
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| Hum Genet 103 : 124-130. 1998
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| 17 | CDK16, CSNB1A, CSNB2A, RP2, USP11
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| UHX1 and PCTK1 : precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1-p11.2.
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| Brandau O, et al.
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| Eur J Hum Genet 6 : 459-466. 1998
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| 18 | CSNB2A
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| Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.
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| Bergen AAB, et al.
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| J Med Genet 33 : 869-872. 1996
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| 19 | CSNB2A
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| Localization of a novel X-linked congenital stationary night blindness locus : close linkage to the RP3 type retinitis pigmentosa gene region.
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| Bergen AAB, et al.
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| Hum Mol Genet 4 : 931-935. 1995
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| 20 | CSNB2A, DMD, OED
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| Duchenne muscular dystrophy : negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness.
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| Jensen H, et al.
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| J Med Genet 32 : 348-351. 1995
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| 21 | CSNB1A, CSNB2A
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| Clinical findings in patients with congenital strationary night blindness of the Schubert-Bornschein type.
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| Ruether K, et al.
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| Ger J Ophthalmol 2 : 429-435. 1993
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