Night blindness, congenital stationary, type 1B; CSNB1B

Disease ID:691
Name:Night blindness, congenital stationary, type 1B; CSNB1B
Associated with:1 target
Synonyms
Congenital stationary night blindness
Database Links
Disease Ontology: DOID:0050534
OMIM: 257270
Orphanet: ORPHA215

Targets

mGlu6 receptor
Comments:  Single nucleotide polymorphisms. Loss of function mutations in the human mGlu6 gene are associated with night blindness and abnormal cone electroretinogram ON responses.
References:  1-2

Ligands

No ligand related data available for Night blindness, congenital stationary, type 1B; CSNB1B

References

Show »

1. Dryja TP, McGee TL, Berson EL, Fishman GA, Sandberg MA, Alexander KR, Derlacki DJ, Rajagopalan AS. (2005) Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proc Natl Acad Sci U S A., 102: 4884-4889. [PMID:15781871]

2. Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Mátyás G, Hoyng CB, Riemslag F, Meire F, Cremers FP, Berger W. (2005) Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. Invest Ophthalmol Vis Sci, 46: 4328-4335. [PMID:16249515]