Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot sy
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ORIGINAL RESEARCH ARTICLE
Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up Xiao Liu . Lixia Gao . Gang Wang . Yanling Long . Jiayun Ren . Kaoru Fujinami . Xiaohong Meng . Shiying Li
Received: 8 December 2019 / Accepted: 31 March 2020 Ó Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Purpose We report a 15-month follow-up case on a Chinese patient with Oguchi disease associated with the multiple evanescent white dot syndrome (MEWDS). Methods The patient’s clinical presentation and follow-up visits were documented via decimal bestcorrected visual acuity, fundus photography, fundus autofluorescence (FAF) imaging, near-infrared FAF, spectral domain optical coherence tomography, Co-first authors: Xiao Liu and Lixia Gao X. Liu L. Gao G. Wang Y. Long J. Ren X. Meng (&) S. Li (&) Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University), No. 30 Gaotanyan Street Shapingba District, Chongqing, China e-mail: [email protected] S. Li e-mail: [email protected] X. Liu L. Gao G. Wang Y. Long J. Ren X. Meng S. Li Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China
Humphrey’s visual fields, microperimetry, and multifocal electroretinography. We also performed whole exome sequencing for screening variation in the patient and her relatives. Results The patient had typical clinical characteristic of Oguchi disease, including night blindness, the Mizuo–Nakamura phenomenon (a golden yellow discoloration of the fundus that disappears in the prolonged dark adaptation [DA]) and typical full-field electroretinogram changes (nearly undetected b-wave in 0.01 and 0.03 ERGs that can partially recover only after prolonged DA). Aside from Oguchi disease, the X. Liu K. Fujinami Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan K. Fujinami Department of Genetics, UCL Institute of Ophthalmology, London, UK K. Fujinami Division of Inherited Eye Diseases, Moorfields Eye Hospital, London, UK
X. Liu Laboratory of Visual Physiology, Division for Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Tokyo, Japan
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patient was also diagnosed with the MEWDS based on clinical detections, including suddenly reduced visual acuity, appeared white dots, blurred ellipsoid zone and disrupted interdigitation zone, enlarged blind spot, and reduced macular sensitivity. A series of investigations revealed that along with the 15-month follow-up after onset, the visual acuity enhanced, the numerous white dots disappeared, and the macular structure returned to normal. Moreover, the novel homozygous splicing alteration c.181 ? 1G [ A was identified in the SAG gene. Conclusions This work is the first long-term case study of a patient with Oguchi disease associated with the MEWDS. The recovery period of
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