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Congenital stationary night blindness autosomal dominant 3(CSNBAD3)

MedGen UID:
355313
•Concept ID:
C1864870
•
Disease or Syndrome
Synonym: NIGHT BLINDNESS, CONGENITAL STATIONARY, NOUGARET TYPE
 
Gene (location): GNAT1 (3p21.31)
 
Monarch Initiative: MONDO:0012497
OMIM®: 610444

Definition

A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21. [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

Professional guidelines

PubMed

RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec.
Stingl K, Priglinger C, Herrmann P
Klin Monbl Augenheilkd 2024 Mar;241(3):259-265. Epub 2024 Mar 20 doi: 10.1055/a-2227-3671. PMID: 38508214

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

Diagnosis

RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec.
Stingl K, Priglinger C, Herrmann P
Klin Monbl Augenheilkd 2024 Mar;241(3):259-265. Epub 2024 Mar 20 doi: 10.1055/a-2227-3671. PMID: 38508214
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
An unusual retinal phenotype associated with a novel mutation in RHO.
Audo I, Friedrich A, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Bhattacharya S, Sahel JA, Zeitz C
Arch Ophthalmol 2010 Aug;128(8):1036-45. doi: 10.1001/archophthalmol.2010.162. PMID: 20697005
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

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

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