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X-linked congenital stationary night blindness

MedGen UID:
448009
•Concept ID:
CN043584
•
Disease or Syndrome
Synonyms: congenital stationary night blindness, X-linked; X-linked CSNB; XLCSNB
 
Related genes: NYX, CACNA1F
 
Monarch Initiative: MONDO:0044749

Disease characteristics

Excerpted from the GeneReview: X-Linked Congenital Stationary Night Blindness
X-linked congenital stationary night blindness (CSNB) is characterized by non-progressive retinal findings of reduced visual acuity ranging from 20/30 to 20/200; defective dark adaptation; refractive error, most typically myopia ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D) but occasionally hyperopia; nystagmus; strabismus; normal color vision; and normal fundus examination. Characteristic ERG findings can help distinguish between complete X-linked CSNB and incomplete X-linked CSNB. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Ian M MacDonald  |  Stephanie Hoang  |  Sari Tuupanen   view full author information

Professional guidelines

PubMed

Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.
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
Case populations must match the respective disease model: Genotype diversity causes linkage disequilibrium mapping failure in monogenic disorders.
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

Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness.
Schatz A, Kelbsch C, Zeitz C, Kohl S, Zrenner E, Gekeler F, Wilhelm H, Wilhelm B, Willmann G
Graefes Arch Clin Exp Ophthalmol 2019 Jun;257(6):1207-1215. Epub 2019 Apr 13 doi: 10.1007/s00417-019-04319-w. PMID: 30982101
Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.
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
Mutations in the CACNA1F and NYX genes in British CSNBX families.
Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR, Bird AC, Erskine L, Cheetham ME, Webster AR, Poopalasundaram S, Moore AT, Trump D, Hardcastle AJ
Hum Mutat 2003 Feb;21(2):169. doi: 10.1002/humu.9106. PMID: 12552565
Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene.
Jacobi FK, Andréasson S, Langrova H, Meindl A, Zrenner E, Apfelstedt-Sylla E, Pusch CM
Graefes Arch Clin Exp Ophthalmol 2002 Oct;240(10):822-8. Epub 2002 Sep 21 doi: 10.1007/s00417-002-0562-z. PMID: 12397430
Calcium channels and channelopathies of the central nervous system.
Pietrobon D
Mol Neurobiol 2002 Feb;25(1):31-50. doi: 10.1385/MN:25:1:031. PMID: 11890456

Diagnosis

Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness.
Schatz A, Kelbsch C, Zeitz C, Kohl S, Zrenner E, Gekeler F, Wilhelm H, Wilhelm B, Willmann G
Graefes Arch Clin Exp Ophthalmol 2019 Jun;257(6):1207-1215. Epub 2019 Apr 13 doi: 10.1007/s00417-019-04319-w. PMID: 30982101
Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.
Zeitz C, Minotti R, Feil S, Mátyás G, Cremers FP, Hoyng CB, Berger W
Mol Vis 2005 Mar 2;11:179-83. PMID: 15761389
Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.
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
Using mutant mice to study the role of voltage-gated calcium channels in the retina.
Ball SL, Gregg RG
Adv Exp Med Biol 2002;514:439-50. doi: 10.1007/978-1-4615-0121-3_26. PMID: 12596937
Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity.
Pusch CM, Maurer J, Ramser J, Tomiuk J, Achatz H, Pesch K, Lichtner P, Apfelstedt-Sylla E, Jacobi FK, Berger W, Meindl A, Wissinger B
Int J Mol Med 2001 Feb;7(2):155-61. doi: 10.3892/ijmm.7.2.155. PMID: 11172618

Prognosis

Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness.
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
A potential spontaneous rat model of X-linked congenital stationary night blindness.
Zhang Z, Gu Y, Li L, Long T, Guo Q, Shi L
Doc Ophthalmol 2003 Jul;107(1):53-7. doi: 10.1023/a:1024487912791. PMID: 12906122
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.
Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT
Hum Genet 2001 Feb;108(2):91-7. doi: 10.1007/s004390100461. PMID: 11281458
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.
Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi FK, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A
Nat Genet 2000 Nov;26(3):324-7. doi: 10.1038/81627. PMID: 11062472
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 summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.
Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT
Hum Genet 2001 Feb;108(2):91-7. doi: 10.1007/s004390100461. PMID: 11281458
Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity.
Pusch CM, Maurer J, Ramser J, Tomiuk J, Achatz H, Pesch K, Lichtner P, Apfelstedt-Sylla E, Jacobi FK, Berger W, Meindl A, Wissinger B
Int J Mol Med 2001 Feb;7(2):155-61. doi: 10.3892/ijmm.7.2.155. PMID: 11172618
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.
Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi FK, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A
Nat Genet 2000 Nov;26(3):324-7. doi: 10.1038/81627. PMID: 11062472
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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