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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.
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).
Decreased light- and dark-adapted electroretinogram amplitude
MedGen UID:
326793
Concept ID:
C1839025
Finding
Decreased amplitude of eletrical response upon electroretinography.
Visual field defect
MedGen UID:
854603
Concept ID:
C3887875
Finding
An absolute or relative reduction in the extent of the normal field of vision.

Recent clinical studies

Etiology

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
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
Cashman SM, Binkley EA, Kumar-Singh R
Gene Ther 2005 Aug;12(15):1223-8. doi: 10.1038/sj.gt.3302512. PMID: 15877050
Pietrobon D
Mol Neurobiol 2002 Feb;25(1):31-50. doi: 10.1385/MN:25:1:031. PMID: 11890456

Diagnosis

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
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
Haim M
Acta Ophthalmol (Copenh) 1986 Apr;64(2):192-8. doi: 10.1111/j.1755-3768.1986.tb06899.x. PMID: 3487908

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
Cashman SM, Binkley EA, Kumar-Singh R
Gene Ther 2005 Aug;12(15):1223-8. doi: 10.1038/sj.gt.3302512. PMID: 15877050

Prognosis

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

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
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

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