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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

CACNA1F-related synaptic dysfunction: challenges diagnosing congenital stationary night blindness presenting without night blindness.
Dumitrescu AV, Pfeifer WL, Arhens M, Andorf JL, Drack AV
Can J Ophthalmol 2024 Dec;59(6):e808-e818. Epub 2023 Dec 27 doi: 10.1016/j.jcjo.2023.11.022. PMID: 38159912
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

Diagnosis

CACNA1F-related synaptic dysfunction: challenges diagnosing congenital stationary night blindness presenting without night blindness.
Dumitrescu AV, Pfeifer WL, Arhens M, Andorf JL, Drack AV
Can J Ophthalmol 2024 Dec;59(6):e808-e818. Epub 2023 Dec 27 doi: 10.1016/j.jcjo.2023.11.022. PMID: 38159912
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
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
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

Prognosis

CACNA1F-related synaptic dysfunction: challenges diagnosing congenital stationary night blindness presenting without night blindness.
Dumitrescu AV, Pfeifer WL, Arhens M, Andorf JL, Drack AV
Can J Ophthalmol 2024 Dec;59(6):e808-e818. Epub 2023 Dec 27 doi: 10.1016/j.jcjo.2023.11.022. PMID: 38159912
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
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

CACNA1F-related synaptic dysfunction: challenges diagnosing congenital stationary night blindness presenting without night blindness.
Dumitrescu AV, Pfeifer WL, Arhens M, Andorf JL, Drack AV
Can J Ophthalmol 2024 Dec;59(6):e808-e818. Epub 2023 Dec 27 doi: 10.1016/j.jcjo.2023.11.022. PMID: 38159912
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
Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness.
Jensen H, Warburg M, Sjö O, Schwartz M
J Med Genet 1995 May;32(5):348-51. doi: 10.1136/jmg.32.5.348. PMID: 7616540Free PMC Article

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