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Congenital stationary night blindness autosomal dominant 2(CSNBAD2)

MedGen UID:
361814
•Concept ID:
C1876182
•
Disease or Syndrome
Synonym: NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE
 
Gene (location): PDE6B (4p16.3)
 
Monarch Initiative: MONDO:0008099
OMIM®: 163500

Definition

Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene. [from MONDO]

Clinical features

From HPO
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Congenital stationary night blindness
MedGen UID:
83289
•Concept ID:
C0339535
•
Congenital Abnormality
A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.
See: Feature record | Search on this feature
Abnormal fundus morphology
MedGen UID:
871316
•Concept ID:
C4025804
•
Anatomical Abnormality
Any structural abnormality of the fundus of the eye.
See: Feature record | Search on this feature
Moderate myopia
MedGen UID:
939834
•Concept ID:
C4315867
•
Disease or Syndrome
A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV
Am J Ophthalmol 2018 Jun;190:58-68. Epub 2018 Mar 17 doi: 10.1016/j.ajo.2018.03.021. PMID: 29559409
Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.
Chen RW, Greenberg JP, Lazow MA, Ramachandran R, Lima LH, Hwang JC, Schubert C, Braunstein A, Allikmets R, Tsang SH
Am J Ophthalmol 2012 Jan;153(1):143-54.e2. Epub 2011 Sep 13 doi: 10.1016/j.ajo.2011.06.018. PMID: 21920492Free PMC Article
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
Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference.
Cashman SM, Binkley EA, Kumar-Singh R
Gene Ther 2005 Aug;12(15):1223-8. doi: 10.1038/sj.gt.3302512. PMID: 15877050
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

A clinical and electrophysiological case study of a child with a novel frame shift mutation in the CACNA1F and missense variation of RIMS1 genes.
Weston P, Taranath D, Liebelt J, Smith N
Doc Ophthalmol 2022 Oct;145(2):163-174. Epub 2022 Aug 10 doi: 10.1007/s10633-022-09892-w. PMID: 35947237
Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV
Am J Ophthalmol 2018 Jun;190:58-68. Epub 2018 Mar 17 doi: 10.1016/j.ajo.2018.03.021. PMID: 29559409
Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.
Chen RW, Greenberg JP, Lazow MA, Ramachandran R, Lima LH, Hwang JC, Schubert C, Braunstein A, Allikmets R, Tsang SH
Am J Ophthalmol 2012 Jan;153(1):143-54.e2. Epub 2011 Sep 13 doi: 10.1016/j.ajo.2011.06.018. PMID: 21920492Free PMC Article
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
Congenital stationary night blindness.
Haim M
Acta Ophthalmol (Copenh) 1986 Apr;64(2):192-8. doi: 10.1111/j.1755-3768.1986.tb06899.x. PMID: 3487908

Therapy

Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference.
Cashman SM, Binkley EA, Kumar-Singh R
Gene Ther 2005 Aug;12(15):1223-8. doi: 10.1038/sj.gt.3302512. PMID: 15877050

Prognosis

Autosomal dominant stationary night-blindness. A large family rediscovered.
Rosenberg T, Haim M, Piczenik Y, Simonsen SE
Acta Ophthalmol (Copenh) 1991 Dec;69(6):694-702. doi: 10.1111/j.1755-3768.1991.tb02046.x. PMID: 1789082

Clinical prediction guides

Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y
Doc Ophthalmol 2020 Apr;140(2):147-157. Epub 2019 Oct 3 doi: 10.1007/s10633-019-09727-1. PMID: 31583501
p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.
Szabo V, Kreienkamp HJ, Rosenberg T, Gal A
Hum Mutat 2007 Jul;28(7):741-2. doi: 10.1002/humu.9499. PMID: 17584859
Congenital motor nystagmus linked to Xq26-q27.
Kerrison JB, Vagefi MR, Barmada MM, Maumenee IH
Am J Hum Genet 1999 Feb;64(2):600-7. doi: 10.1086/302244. PMID: 9973299Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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