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Despite the synaptic defect, best visual acuities were normal or only moderately reduced (20\/15 to 20\/40). The patients were night blind from an early age, and when maximally dark-adapted, they could perceive lights only with an intensity equal to or slightly dimmer than that normally detected by the cone system (i.e., 2-3 log units above normal). Electroretinograms (ERGs) in response to single brief flashes of light had clearly detectable a-waves, which are derived from photoreceptors, and greatly reduced b-waves, which are derived from the second-order inner retinal neurons. ERGs in response to sawtooth flickering light indicated a markedly reduced ON response and a nearly normal OFF response. There was no subjective delay in the perception of suddenly appearing white vs. black objects on a gray background. These patients exemplify a previously unrecognized, autosomal recessive form of congenital night blindness associated with a negative ERG waveform.\n                  <\/jats:p>","DOI":"10.1073\/pnas.0501233102","type":"journal-article","created":{"date-parts":[[2005,3,21]],"date-time":"2005-03-21T20:33:31Z","timestamp":1111437211000},"page":"4884-4889","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":215,"title":["Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the\n                    <i>GRM6<\/i>\n                    gene encoding mGluR6"],"prefix":"10.1073","volume":"102","author":[{"given":"Thaddeus P.","family":"Dryja","sequence":"first","affiliation":[{"name":"Department of Ophthalmology and Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, and Massachusetts Eye and Ear Infirmary, Boston, MA 02114; and Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, IL 60612"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terri L.","family":"McGee","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, and Massachusetts Eye and Ear Infirmary, Boston, MA 02114; and Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, IL 60612"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliot L.","family":"Berson","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, and Massachusetts Eye and Ear Infirmary, Boston, MA 02114; and Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, IL 60612"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerald A.","family":"Fishman","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, and Massachusetts Eye and Ear Infirmary, Boston, MA 02114; and Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, IL 60612"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Sandberg","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, and Massachusetts Eye and Ear Infirmary, Boston, MA 02114; and Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, IL 60612"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth R.","family":"Alexander","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, and Massachusetts Eye and Ear Infirmary, Boston, MA 02114; and Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, IL 60612"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah J.","family":"Derlacki","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, and Massachusetts Eye and Ear Infirmary, Boston, MA 02114; and Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, IL 60612"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aruna S.","family":"Rajagopalan","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, and Massachusetts Eye and Ear Infirmary, Boston, MA 02114; and Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, IL 60612"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2005,3,21]]},"reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.1991.71.2.447"},{"key":"e_1_3_2_2_2","first-page":"701","volume":"91","year":"1993","unstructured":"Sieving, P. 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