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Complete congenital stationary night blindness

MedGen UID:
881697
Concept ID:
C4048798
Congenital Abnormality
Synonym: Night blindness, congenital stationary, complete
 
HPO: HP:0030640

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVComplete congenital stationary night blindness

Professional guidelines

PubMed

Allen LE, Zito I, Bradshaw K, Patel RJ, Bird AC, Fitzke F, Yates JR, Trump D, Hardcastle AJ, Moore AT
Br J Ophthalmol 2003 Nov;87(11):1413-20. doi: 10.1136/bjo.87.11.1413. PMID: 14609846Free PMC Article
Pesch K, Tomiuk J, Broghammer M, Zrenner E, Apfelstedt-Sylla E, Jacobi FK, Wissinger B, Pusch CM
Int J Mol Med 2001 Jul;8(1):53-8. doi: 10.3892/ijmm.8.1.53. PMID: 11408949

Recent clinical studies

Etiology

Al-Hujaili H, Taskintuna I, Neuhaus C, Bergmann C, Schatz P
Mol Vis 2019;25:851-858. Epub 2019 Dec 19 PMID: 31908403Free PMC Article
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
Am J Ophthalmol 2012 Dec;154(6):987-1001.e1. Epub 2012 Sep 7 doi: 10.1016/j.ajo.2012.06.003. PMID: 22959359Free PMC Article
Peachey NS, Ray TA, Florijn R, Rowe LB, Sjoerdsma T, Contreras-Alcantara S, Baba K, Tosini G, Pozdeyev N, Iuvone PM, Bojang P Jr, Pearring JN, Simonsz HJ, van Genderen M, Birch DG, Traboulsi EI, Dorfman A, Lopez I, Ren H, Goldberg AF, Nishina PM, Lachapelle P, McCall MA, Koenekoop RK, Bergen AA, Kamermans M, Gregg RG
Am J Hum Genet 2012 Feb 10;90(2):331-9. doi: 10.1016/j.ajhg.2011.12.006. PMID: 22325362Free PMC Article
Sergouniotis PI, Robson AG, Li Z, Devery S, Holder GE, Moore AT, Webster AR
Acta Ophthalmol 2012 May;90(3):e192-7. Epub 2011 Oct 19 doi: 10.1111/j.1755-3768.2011.02267.x. PMID: 22008250
Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR
Am J Hum Genet 2009 Nov;85(5):711-9. Epub 2009 Oct 29 doi: 10.1016/j.ajhg.2009.10.003. PMID: 19878917Free PMC Article

Diagnosis

Hayashi T, Murakami Y, Mizobuchi K, Koyanagi Y, Sonoda KH, Nakano T
Ophthalmic Genet 2021 Aug;42(4):412-419. Epub 2021 Mar 26 doi: 10.1080/13816810.2021.1904422. PMID: 33769208
Hayashi T, Mizobuchi K, Kikuchi S, Nakano T
Doc Ophthalmol 2021 Apr;142(2):265-273. Epub 2020 Oct 17 doi: 10.1007/s10633-020-09798-5. PMID: 33068213
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA
Prog Retin Eye Res 2021 May;82:100898. Epub 2020 Aug 26 doi: 10.1016/j.preteyeres.2020.100898. PMID: 32860923
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
Am J Ophthalmol 2012 Dec;154(6):987-1001.e1. Epub 2012 Sep 7 doi: 10.1016/j.ajo.2012.06.003. PMID: 22959359Free PMC Article
Sergouniotis PI, Robson AG, Li Z, Devery S, Holder GE, Moore AT, Webster AR
Acta Ophthalmol 2012 May;90(3):e192-7. Epub 2011 Oct 19 doi: 10.1111/j.1755-3768.2011.02267.x. PMID: 22008250

Prognosis

Al-Hujaili H, Taskintuna I, Neuhaus C, Bergmann C, Schatz P
Mol Vis 2019;25:851-858. Epub 2019 Dec 19 PMID: 31908403Free PMC Article
Ivanova ME, Zolnikova IV, Gorgisheli KV, Atarshchikov DS, Ghosh P, Barh D
Ophthalmic Genet 2019 Dec;40(6):558-563. Epub 2019 Dec 11 doi: 10.1080/13816810.2019.1698617. PMID: 31826698
Zhou L, Li T, Song X, Li Y, Li H, Dan H
Mol Vis 2015;21:213-23. Epub 2015 Mar 5 PMID: 25802485Free PMC Article
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
Am J Hum Genet 2013 Jan 10;92(1):67-75. Epub 2012 Dec 13 doi: 10.1016/j.ajhg.2012.10.023. PMID: 23246293Free PMC Article
Quigley M, Roy MS, Barsoum-Homsy M, Chevrette L, Jacob JL, Milot J
Doc Ophthalmol 1996-1997;92(3):159-65. doi: 10.1007/BF02583287. PMID: 9181343

Clinical prediction guides

Zhou L, Li T, Song X, Li Y, Li H, Dan H
Mol Vis 2015;21:213-23. Epub 2015 Mar 5 PMID: 25802485Free PMC Article
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
Am J Hum Genet 2013 Jan 10;92(1):67-75. Epub 2012 Dec 13 doi: 10.1016/j.ajhg.2012.10.023. PMID: 23246293Free PMC Article
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
Am J Ophthalmol 2012 Dec;154(6):987-1001.e1. Epub 2012 Sep 7 doi: 10.1016/j.ajo.2012.06.003. PMID: 22959359Free PMC Article
Leroy BP, Budde BS, Wittmer M, De Baere E, Berger W, Zeitz C
Br J Ophthalmol 2009 May;93(5):692-6. Epub 2008 Jul 10 doi: 10.1136/bjo.2008.143727. PMID: 18617546
Barnes CS, Alexander KR, Fishman GA
Ophthalmology 2002 Mar;109(3):575-83. doi: 10.1016/s0161-6420(01)00981-2. PMID: 11874764

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