July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.1
Author Affiliations & Notes
  • Kaoru Fujinami
    Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Meguro-ku, Tokyo, Japan
    Genetics, UCL Institute of Ophthalmology, London, United Kingdom
  • Lizhu Yang
    Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Meguro-ku, Tokyo, Japan
    Department of Ophthalmology, Keio University School of Medicine, Meguro-ku, Tokyo, Japan
  • Kwangsic Joo
    Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Meguro-ku, Tokyo, Japan
  • Kazushige Tsunoda
    Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Meguro-ku, Tokyo, Japan
  • Yuichi Kawamura
    Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Meguro-ku, Japan
  • Yu Fujinami
    Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Meguro-ku, Tokyo, Japan
    Department of Public Health Research, Yokokawa clinic, Suita, Osaka, Japan
  • Gavin Arno
    Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Meguro-ku, Tokyo, Japan
    Genetics, UCL Institute of Ophthalmology, London, United Kingdom
  • Toshihide Kurihara
    Department of Ophthalmology, Keio University School of Medicine, Meguro-ku, Tokyo, Japan
  • Kazuo Tsubota
    Department of Ophthalmology, Keio University School of Medicine, Meguro-ku, Tokyo, Japan
  • Xuan Zou
    Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China
  • Hui Li
    Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China
  • Kyu Hyung Park
    Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea (the Democratic People's Republic of)
  • Takeshi Iwata
    Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Meguro-ku, Japan
  • Yozo Miyake
    Aichi Medical University, Nagakute, Japan
    Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Meguro-ku, Tokyo, Japan
  • Se Joon Woo
    Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea (the Democratic People's Republic of)
  • Ruifang Sui
    Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China
  • Footnotes
    Commercial Relationships   Kaoru Fujinami, Astellas Pharma Inc (F), Astellas Pharma Inc (C), Astellas Pharma Inc (R), Japanese Ophthalmology Society (R), SANTEN Company Limited (R); Lizhu Yang, Astellas Pharma Inc (F); Kwangsic Joo, None; Kazushige Tsunoda, Astellas Pharma Inc. (F); Yuichi Kawamura, None; Yu Fujinami, Astellas Pharma Inc (F); Gavin Arno, None; Toshihide Kurihara, None; Kazuo Tsubota, None; Xuan Zou, None; Hui Li, None; Kyu Hyung Park, None; Takeshi Iwata, None; Yozo Miyake, None; Se Joon Woo, RetiMark (F), Samsung Bioepis Inc. (C); Ruifang Sui, None
  • Footnotes
    Support  Foundation Fighting Blindness Career Development Award (USA), The Great Britain Sasakawa Foundation, Butterfield Awards for UK-Japan collaboration in medical research and public health Practice (UK), Grant-in-Aid for Young Scientists (A) and Fund for the Promotion of Joint International Research, Fostering Joint International Research, The Ministry of Education, Culture, Sports, Science and Technology (Japan), The Specified Disease Research Program on Intractable Diseases, The Ministry of Health Labour and Welfare (Japan), and National Hospital Organization Network Research Fund (Japan).
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 1431. doi:
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    • Get Citation

      Kaoru Fujinami, Lizhu Yang, Kwangsic Joo, Kazushige Tsunoda, Yuichi Kawamura, Yu Fujinami, Gavin Arno, Toshihide Kurihara, Kazuo Tsubota, Xuan Zou, Hui Li, Kyu Hyung Park, Takeshi Iwata, Yozo Miyake, Se Joon Woo, Ruifang Sui; Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake’s disease); EAOMD Report No.1. Invest. Ophthalmol. Vis. Sci. 2018;59(9):1431.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : East Asia Inherited Retinal Disease Consortium (EAIRDc) was established in 2016 to understand the etiology of East Asian patients assumed to have similar genetic background. Here, we describe the clinical and genetic characteristics of East Asian patients with occult macular dystrophy (OMD).

Methods : 36 participants from 21 families with a clinical diagnosis of OMD and harboring pathogenic RP1L1 variants (i.e. Miyake’s disease) were enrolled from 3 centers (11 families from Japan, 6 from South Korea and 4 from China). A detailed history was obtained and comprehensive ophthalmological examinations including spectral-domain optic coherence tomography (OCT) were performed. All detected variants in the RP1L1 gene were reviewed and in silico analysis was performed including variant effect prediction.

Results : There were 12 female and 24 male patients. The median age of symptom onset was 25.5 years (range, 2-77) and the median age at the latest examination was 46.0 years (range, 13-89). The median logarithm of the minimum angle of resolution visual acuity (LogMAR VA) in the right and left eyes was 0.60 (range, -0.08-1.22, Snellen equivalent of 20/80) and 0.60 (-0.08-1.10), respectively. The classical morphological phenotype on OCT showing both blurred ellipsoid zone (EZ) and absence of interdigitation zone (IZ) of the photoreceptors was demonstrated in 30 patients (30/36, 83.3%), subtle/early photoreceptor morphological changes of local IZ loss and relatively preserved EZ in 6 (6/36, 16.7%). Eight pathogenic RP1L1 variants were identified including seven reported and one novel variant; p.R45W, p.T1194M/p.T1196I (complex), p.S1199C, p.G1200A, p.G1200D, p.V1201G, and p.S1198F, respectively. Two variants were recurrent; p.R45W (11 families, 52.3%; 1st hot spot) and p.S1199C (5 families, 23.8%). The pathogenic missense variants in 9 families (42.8%) were located in the previously reported unique motif including 6 amino acids (1196-1201; 2nd hot spot).

Conclusions : There is a large spectrum of clinical findings in OMD (Miyake’s disease), including disease onset and VA; while the characteristic photoreceptor microstructural abnormalities were shared in most cases. Two hot spots including amino acid numbers 45 and 1196-1201 in the RP1L1 gene were confirmed in the East Asian population.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

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