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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: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	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]

Authors:
Ian M MacDonald | Stephanie Hoang | Sari Tuupanen view full author information

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital stationary night blindness
- CROGVCongenital stationary night blindness 1B
- CROGVCongenital stationary night blindness 1C
- CROGVX-linked congenital stationary night blindness
  - CROGVCongenital stationary night blindness 1A
  - CROGVCongenital stationary night blindness 2A

Phenotypic abnormality
- Abnormality of the eye
  - Abnormal eye physiology
    - Abnormality of vision
      - Night blindness
        Congenital stationary night blindness
        X-linked congenital stationary night blindness
        Congenital stationary night blindness 1A
        Congenital stationary night blindness 2A

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: 14609846 Free 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

See all (2)

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.

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

See all (6)

Diagnosis

Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness.

Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.

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

X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia.

Price MJ, Judisch GF, Thompson HS
J Pediatr Ophthalmol Strabismus 1988 Jan-Feb;25(1):33-6. doi: 10.3928/0191-3913-19880101-09. PMID: 3257795

See all (12)

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

Localization of nyctalopin in the mammalian retina.

Morgans CW, Ren G, Akileswaran L
Eur J Neurosci 2006 Mar;23(5):1163-71. doi: 10.1111/j.1460-9568.2006.04647.x. PMID: 16553780

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

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

See all (11)

Clinical prediction guides

Localization of nyctalopin in the mammalian retina.

Morgans CW, Ren G, Akileswaran L
Eur J Neurosci 2006 Mar;23(5):1163-71. doi: 10.1111/j.1460-9568.2006.04647.x. PMID: 16553780

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.

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

See all (15)

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X-linked congenital stationary night blindness

Disease characteristics

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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