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X-Linked Csnb

MedGen UID:
778151
•Concept ID:
C3711543
•
Disease or Syndrome
Synonym: Xlcsnb

Professional guidelines

PubMed

Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.
Katta M, de Guimaraes TAC, Fujinami-Yokokawa Y, Fujinami K, Georgiou M, Mahroo OA, Webster AR, Michaelides M
Ophthalmol Retina 2024 Sep;8(9):932-941. Epub 2024 Mar 24 doi: 10.1016/j.oret.2024.03.017. PMID: 38522615
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C, Robson AG, Audo I
Prog Retin Eye Res 2015 Mar;45:58-110. Epub 2014 Oct 13 doi: 10.1016/j.preteyeres.2014.09.001. PMID: 25307992
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM
Ophthalmology 2013 Oct;120(10):2072-81. Epub 2013 May 25 doi: 10.1016/j.ophtha.2013.03.002. PMID: 23714322

Recent clinical studies

Etiology

Is optic nerve fibre mis-routing a feature of congenital stationary night blindness?
Ung T, Allen LE, Moore AT, Trump D, Zito I, Hardcastle AJ, Yates J, Bradshaw K
Doc Ophthalmol 2005 Nov;111(3):169-78. Epub 2006 Mar 6 doi: 10.1007/s10633-005-5503-9. PMID: 16523234
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.
Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AA, Prinsen CF, Polomeno RC, Gal A, Drack AV, Musarella MA, Jacobson SG, Young RS, Weleber RG
Nat Genet 2000 Nov;26(3):319-23. doi: 10.1038/81619. PMID: 11062471

Diagnosis

A common NYX mutation in Flemish patients with X linked CSNB.
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
Is optic nerve fibre mis-routing a feature of congenital stationary night blindness?
Ung T, Allen LE, Moore AT, Trump D, Zito I, Hardcastle AJ, Yates J, Bradshaw K
Doc Ophthalmol 2005 Nov;111(3):169-78. Epub 2006 Mar 6 doi: 10.1007/s10633-005-5503-9. PMID: 16523234
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.
Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, Hergersberg M, de la Chapelle A, Weber BH, Wissinger B, Meindl A, Pusch CM
Eur J Hum Genet 2002 Aug;10(8):449-56. doi: 10.1038/sj.ejhg.5200828. PMID: 12111638

Prognosis

A common NYX mutation in Flemish patients with X linked CSNB.
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
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM
Nat Genet 1998 Jul;19(3):264-7. doi: 10.1038/947. PMID: 9662400

Clinical prediction guides

A common NYX mutation in Flemish patients with X linked CSNB.
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
Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23.
Bech-Hansen NT, Boycott KM, Gratton KJ, Ross DA, Field LL, Pearce WG
Hum Genet 1998 Aug;103(2):124-30. doi: 10.1007/s004390050794. PMID: 9760193
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM
Nat Genet 1998 Jul;19(3):264-7. doi: 10.1038/947. PMID: 9662400

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