Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

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Publication year
2005Source
Investigative Ophthalmology and Visual Science, 46, 11, (2005), pp. 4328-35ISSN
Publication type
Article / Letter to editor

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Organization
Ophthalmology
Human Genetics
Journal title
Investigative Ophthalmology and Visual Science
Volume
vol. 46
Issue
iss. 11
Page start
p. 4328
Page end
p. 35
Subject
NCEBP 2: Evaluation of complex medical interventions; NCMLS 6: Genetics and epigenetic pathways of disease; UMCN 3.3: Neurosensory disordersAbstract
PURPOSE: Congenital stationary night blindness (CSNB) is a group of nonprogressive retinal disorders characterized by impaired night vision that occurs in autosomal dominant, autosomal recessive, or X-linked forms. Autosomal recessive (ar)CSNB seems to be very rare. Mice lacking the metabotropic glutamate receptor 6 (Grm6) have a defect in signal transmission from the photoreceptors to ON-bipolar cells. In the current study, the human orthologue (GRM6) was screened as a likely candidate for arCSNB. METHODS: arCSNB individuals of five families were screened for mutations in GRM6. Subsequently, they were examined with standard and 15-Hz flicker electroretinography (ERG). These recordings were compared with those of patients with X-linked CSNB1. RESULTS: Affected individuals in three of five families carried either compound heterozygous or homozygous mutations in GRM6. Strikingly, all of them displayed a distinctive abnormality of the rod pathway signals on scotopic 15-Hz flicker ERG. CONCLUSIONS: The novel profile identified in this study suggests the existence of more than two rod pathways. The distinctive ERG feature was not observed in patients with X-linked CSNB1 and additional affected individuals with unknown molecular defect. These observations will help to discriminate autosomal recessive from X-linked recessive cases by ERG and molecular genetic analysis.
This item appears in the following Collection(s)
- Academic publications [227881]
- Electronic publications [107344]
- Faculty of Medical Sciences [86219]
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