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Congenital stationary night blindness autosomal dominant 1(CSNBAD1)

MedGen UID:
355852
•Concept ID:
C1864869
•
Disease or Syndrome
Synonym: NIGHT BLINDNESS, CONGENITAL STATIONARY, RHODOPSIN-RELATED
 
Gene (location): RHO (3q22.1)
 
Monarch Initiative: MONDO:0012498
OMIM®: 610445

Definition

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

Clinical features

From HPO
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
Bone spicule pigmentation of the retina
MedGen UID:
323029
•Concept ID:
C1836926
•
Finding
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
See: Feature record | Search on this feature
Decreased light- and dark-adapted electroretinogram amplitude
MedGen UID:
326793
•Concept ID:
C1839025
•
Finding
Decreased amplitude of eletrical response upon electroretinography.
See: Feature record | Search on this feature
Visual field defect
MedGen UID:
854603
•Concept ID:
C3887875
•
Finding
An absolute or relative reduction in the extent of the normal field of vision.
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
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

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
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

The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.
Athanasiou D, Aguila M, Bellingham J, Li W, McCulley C, Reeves PJ, Cheetham ME
Prog Retin Eye Res 2018 Jan;62:1-23. Epub 2017 Oct 16 doi: 10.1016/j.preteyeres.2017.10.002. PMID: 29042326Free PMC Article
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

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.
Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T
Nat Genet 1994 May;7(1):64-8. doi: 10.1038/ng0594-64. PMID: 8075643

Clinical prediction guides

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
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.
Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T
Nat Genet 1994 May;7(1):64-8. doi: 10.1038/ng0594-64. PMID: 8075643

Supplemental Content

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      Clinical tests in GTR
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      Related Medical Subject Headings
    • OMIM
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
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