Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease
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CLINICAL CASE REPORT
Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease Brian G. Ballios . Daniel Weisbrod . Radha Kohly . Rajeev H. Muni . Tom Wright . Peng Yan
Received: 30 December 2019 / Accepted: 18 February 2020 Ó Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Purpose The available literature regarding Oguchi disease is limited, with around 50 cases described to date. Caused by mutations to either the SAG gene coding for arrestin (Hayashi et al. in Ophthalmic Res 46:175–180, 2011) or the GRK1 gene coding for rhodopsin kinase (Yamamoto et al. in Nat Genet 15:175–178. https://doi.org/10.1038/ng0297-175, 1997), Oguchi disease is an autosomal recessive condition with a good visual prognosis. The clinical diagnosis of the condition is based on the presence of night blindness (nyctalopia), as well as fundoscopic observation of the Mizuo–Nakamura phenomenon. The Mizuo–Nakamura phenomenon refers to a fundus Tom Wright and Peng Yan—are co-senior authors. B. G. Ballios D. Weisbrod R. Kohly R. H. Muni T. Wright P. Yan Department of Ophthalmology and Vision Sciences, University of Toronto, 340 College Street, Suite 400, Toronto, ON M5T 3A9, Canada B. G. Ballios (&) Department of Ophthalmology and Vision Sciences, University of Toronto, 160 College St., Room 1106, The Donnelly Centre, Toronto, ON M5S 3E1, Canada e-mail: [email protected]
discolouration described as a golden-brown colour with a yellow-grey metallic sheen most prominent in the peripheral retina; after prolonged dark adaptation, the fundus appears normal. The prevalence of Oguchi disease is highest in Japan, particularly with SAG mutations (Nakazawa et al. in Retina 17:17–22, 1997), although patients from Europe, Pakistan and India have also been described. Formal diagnosis requires genetic testing. Methods Wide-field fundus images were obtained in both dark-adapted and light-adapted retina. Optical coherence tomography and dark-adapted electroretinography responses were used to further characterize the clinical phenotype. Results Existing descriptions of Oguchi disease have been limited by available technology. The flashes R. H. Muni Department of Ophthalmology, St. Michael’s Hospital, 61 Queen Street East, Suite 801, Toronto, ON M5B 1W8, Canada T. Wright P. Yan Kensington Vision and Research Centre, 340 College Street, Suite 501, Toronto, ON M5T 3A9, Canada
D. Weisbrod R. Kohly Department of Ophthalmology and Vision Sciences, Sunnybrook Health Sciences Centre, 2075 Bayview Avenue, M-Wing 1st Floor, Toronto, ON M4N 3M5, Canada
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Doc Ophthalmol
required for 45°-montage photographs in a darkadapted eye quickly cause light adaptation. Recent advances in technology enable the capture of larger retinal areas in a single image. Wide-field 133° images were obtained of the native and dark-adapted fundus in natural colour. To our knowledge, these represent the first reported single-wide-field images of Oguchi
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