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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

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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