Congenital stationary night blindness associated with mutations in GRM6 encoding glutamate receptor MGluR6

A recent report describes mutations of the GRM6 gene in three patients with autosomal recessive CSNB. 2 GRM6 encodes the glutamate receptor MGluR6, which is expressed by the rod and cone ON bipolar cells. 3 Pharmacological block of this receptor in primates 4, 5 leads to a similar CSNB phenotype as...

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Bibliographic Details
Published in:British journal of ophthalmology 2006-05, Vol.90 (5), p.653-654
Main Authors: O’Connor, E, Allen, L E, Bradshaw, K, Boylan, J, Moore, A T, Trump, D
Format: Article
Language:English
Subjects:
Child
Codon, Nonsense
Congenital diseases
Female
Females
Genes
Humans
Letter
Mutation
night blindness
Night Blindness - genetics
Photoreceptors
Receptors, Metabotropic Glutamate - genetics
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Summary:A recent report describes mutations of the GRM6 gene in three patients with autosomal recessive CSNB. 2 GRM6 encodes the glutamate receptor MGluR6, which is expressed by the rod and cone ON bipolar cells. 3 Pharmacological block of this receptor in primates 4, 5 leads to a similar CSNB phenotype as that described in subjects with GRM6 mutations. 2 We have previously identified mutations in CACNA1F and NYX genes in males with X linked CSNB, 6, 7 and have encountered several female patients with a similar phenotype. The striking similarities between GRM6 CSNB and CSNB1 caused by NYX mutations suggest that nyctalopin (encoded by NYX) plays an important part in signalling through the "on" bipolar pathway. Since little is known about the function of nyctalopin these clinical observations may help to guide further studies of its function and any interaction with mGluR6 in bipolar cell function.
ISSN:0007-1161
1468-2079
DOI:10.1136/bjo.2005.086678