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dc.contributor.authorMaguire, John
dc.contributor.authorMcKibbin, M.
dc.contributor.authorKhan, K.
dc.contributor.authorAli, M.
dc.contributor.authorKohl, S.
dc.contributor.authorMcKeefry, Declan J.
dc.date.accessioned2018-04-16T08:36:46Z
dc.date.available2018-04-16T08:36:46Z
dc.date.issued2018
dc.identifier.citationMaguire J, McKibbin M, Kahn K et al (2018) CNGB3 mutations cause severe rod dysfunction. Ophthalmic Genetics. 39(1): 108-114.en_US
dc.identifier.urihttp://hdl.handle.net/10454/15500
dc.descriptionYesen_US
dc.description.abstractCongenital achromatopsia or rod monochromatism is a rare autosomal recessive condition defined by a severe loss of cone photoreceptor function in which rods purportedly retain normal or near-to-normal function. This report describes the results of electroretinography in two siblings with CNGB3-associated achromatopsia. Full field light- and dark-adapted electroretinograms (ERGs) were recorded using standard protocols detailed by the International Society for Clinical Electrophysiology of Vision (ISCEV). We also examined rod-mediated ERGs using series of stimuli that varied over a 6 log unit range of retinal illuminances (−1.9–3.5 log scotopic trolands). Dark-adapted ERGs in achromatopsia patients exhibited severely reduced b-wave amplitudes with abnormal b:a ratios (1.3 and 0.6). In comparison, the reduction in a-wave amplitude was less marked. The rod-mediated ERG took on an electronegative appearance at high-stimulus illuminances. Although the defect that causes achromatopsia is primarily in the cone photoreceptors, our results reveal an accompanying disruption of rod function that is more severe than has previously been reported. The differential effects on the b-wave relative to the a-wave points to an inner-retinal locus for the disruption of rod function in these patients.en_US
dc.language.isoenen_US
dc.relation.isreferencedbyhttps://doi.org/10.1080/13816810.2017.1368087en_US
dc.rights© 2018 Taylor & Francis. The Version of Record of this manuscript has been published and is available in Ophthalmic Genetics in 2018 at https://doi.org/10.1080/13816810.2017.1368087.en_US
dc.subjectAchromatopsia; Electroretinogram; Rodsen_US
dc.titleCNGB3 mutations cause severe rod dysfunctionen_US
dc.status.refereedYesen_US
dc.date.Accepted2017-08-12
dc.date.application2017-09-20
dc.typeArticleen_US
dc.type.versionAccepted Manuscripten_US


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