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Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.
Godara P, Cooper RF, Sergouniotis PI, Diederichs MA, Streb MR, Genead MA, McAnany JJ, Webster AR, Moore AT, Dubis AM, Neitz M, Dubra A, Stone EM, Fishman GA, Han DP, Michaelides M, Carroll J. Godara P, et al. Am J Ophthalmol. 2012 Dec;154(6):987-1001.e1. doi: 10.1016/j.ajo.2012.06.003. Epub 2012 Sep 7. Am J Ophthalmol. 2012. PMID: 22959359 Free PMC article.
PURPOSE: To examine retinal structure and changes in photoreceptor intensity after dark adaptation in patients with complete congenital stationary night blindness and Oguchi disease. DESIGN: Prospective, observational case series. METHODS …
PURPOSE: To examine retinal structure and changes in photoreceptor intensity after dark adaptation in patients with complete conge …
A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction.
Barnes CS, Alexander KR, Fishman GA. Barnes CS, et al. Ophthalmology. 2002 Mar;109(3):575-83. doi: 10.1016/s0161-6420(01)00981-2. Ophthalmology. 2002. PMID: 11874764
PURPOSE: To characterize a distinctive form of congenital stationary night blindness (CSNB). DESIGN: Observational case report. PARTICIPANTS: A 30-year-old male with a history of night blindness, several members of his family, a patient with "complete" congenital …
PURPOSE: To characterize a distinctive form of congenital stationary night blindness (CSNB). DESIGN: Observational case report. PARTI …
NYX mutations in four families with high myopia with or without CSNB1.
Zhou L, Li T, Song X, Li Y, Li H, Dan H. Zhou L, et al. Mol Vis. 2015 Mar 5;21:213-23. eCollection 2015. Mol Vis. 2015. PMID: 25802485 Free PMC article.
PURPOSE: Mutations in the NYX gene are known to cause complete congenital stationary night blindness (CSNB1), which is always accompanied by high myopia. ...The effect of each variation on the nyctalopin protein was predicted using online …
PURPOSE: Mutations in the NYX gene are known to cause complete congenital stationary night blindness (CSN …
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuillé M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B; Congenital Stationary Night Blindness Consortium; Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H, Poch O, Dollfus H, Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I. Zeitz C, et al. Am J Hum Genet. 2013 Jan 10;92(1):67-75. doi: 10.1016/j.ajhg.2012.10.023. Epub 2012 Dec 13. Am J Hum Genet. 2013. PMID: 23246293 Free PMC article.
Subsequent Sanger sequencing of 89 individuals with CSNB identified another cCSNB case harboring a nonsense mutation (c.1151C>G [p.Ser384()]) and a deletion predicted to lead to a premature stop codon (c.1538_1539del [p.Ser513Cysfs()59]) in the same gene. Human LRIT3 an …
Subsequent Sanger sequencing of 89 individuals with CSNB identified another cCSNB case harboring a nonsense mutation (c.1151C>G [p.Ser384 …
LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells.
Neuillé M, Cao Y, Caplette R, Guerrero-Given D, Thomas C, Kamasawa N, Sahel JA, Hamel CP, Audo I, Picaud S, Martemyanov KA, Zeitz C. Neuillé M, et al. Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1768-1778. doi: 10.1167/iovs.16-20745. Invest Ophthalmol Vis Sci. 2017. PMID: 28334377 Free PMC article.
PURPOSE: Mutations in LRIT3 lead to complete congenital stationary night blindness (cCSNB). Using a cCSNB mouse model lacking Lrit3 (nob6), we recently have shown that LRIT3 has a role in the correct localization of TRPM1 (transient receptor pot …
PURPOSE: Mutations in LRIT3 lead to complete congenital stationary night blindness (cCSNB). Using a cCSNB …
The a-wave latency in control subjects and patients with retinal diseases.
Hamasaki DI, Liu M, Qiu H, Fujiwara E, Lam BL. Hamasaki DI, et al. Jpn J Ophthalmol. 2002 Jul-Aug;46(4):433-42. doi: 10.1016/s0021-5155(02)00504-x. Jpn J Ophthalmol. 2002. PMID: 12225823
METHODS: The a-wave latency and implicit time (IT) were measured retrospectively from the ERGs of 40 control subjects and 99 patients. The patients included 9 with complete congenital stationary night blindness (cCSNB), 13 with achromatopsia or …
METHODS: The a-wave latency and implicit time (IT) were measured retrospectively from the ERGs of 40 control subjects and 99 patients. The p …
A common NYX mutation in Flemish patients with X linked CSNB.
Leroy BP, Budde BS, Wittmer M, De Baere E, Berger W, Zeitz C. Leroy BP, et al. Br J Ophthalmol. 2009 May;93(5):692-6. doi: 10.1136/bjo.2008.143727. Epub 2008 Jul 10. Br J Ophthalmol. 2009. PMID: 18617546 Free article.
AIMS: The Schubert-Bornschein type of complete congenital stationary night blindness (CSNB) is a genetically heterogeneous retinal disorder. ...RESULTS: In the affected individuals of three Flemish families with the complete form of CSNB a novel …
AIMS: The Schubert-Bornschein type of complete congenital stationary night blindness (CSNB) is a genetica …
A novel missense mutation in the NYX gene associated with high myopia.
Yip SP, Li CC, Yiu WC, Hung WH, Lam WW, Lai MC, Ng PW, Fung WY, Chu PH, Jiang B, Chan HH, Yap MK. Yip SP, et al. Ophthalmic Physiol Opt. 2013 May;33(3):346-53. doi: 10.1111/opo.12036. Epub 2013 Feb 14. Ophthalmic Physiol Opt. 2013. PMID: 23406521
PURPOSE: Myopia is a complex eye disorder. The X-linked form of complete congenital stationary night blindness (CSNB1A) is usually associated with moderate to high myopia, and is caused by mutations in the NYX gene. ...Neither was this variant f …
PURPOSE: Myopia is a complex eye disorder. The X-linked form of complete congenital stationary night blindnes …