Mutations inGRM6Cause Autosomal Recessive Congenital Stationary Night Blindness with a Distinctive Scotopic 15-Hz Flicker Electroretinogram
Investigative Ophthalmology & Visual Science2005Vol. 46(11), pp. 4328–4328
Citations Over TimeTop 14% of 2005 papers
Christina Zeitz, Maria van Genderen, John Neidhardt, Ulrich F. O. Luhmann, Frank P. Hoeben, U. Förster, Katharina Agnes Wycisk, Ga´bor Ma´tya´s, Carel B. Hoyng, Frans C. C. Riemslag, Franc ̧oise Meire, Frans P.M. Cremers, Wolfgang Berger
Abstract
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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