IOVS Journal of Clinical Microbiology
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(Investigative Ophthalmology and Visual Science. 2005;46:4328-4335.)
© 2005 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.05-0526
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Mutations in GRM6 Cause Autosomal Recessive Congenital Stationary Night Blindness with a Distinctive Scotopic 15-Hz Flicker Electroretinogram

Christina Zeitz,1,2 Maria van Genderen,2,3 John Neidhardt,1 Ulrich F. O. Luhmann,1 Frank Hoeben,3 Ursula Forster,1 Katharina Wycisk,1 Gábor Mátyás,1 Carel B. Hoyng,4 Frans Riemslag,3 Françoise Meire,3 Frans P. M. Cremers,5 and Wolfgang Berger1

1From the Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland; the 3Institute for the Visually Handicapped "Bartimeus," Zeist, The Netherlands; and the 4Departments of Ophthalmology and 5Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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.




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