September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Japan Occult Macular Dystrophy Project: Association of Genotype and Photoreceptor Architecture
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
    Department of Ophthalmology, Keio University, School of Medicine, Shinjuku-ku, Tokyo, Japan
  • Shuhei Kameya
    Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, Inzai, Japan
  • Shinji Ueno
    Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan
  • Mineo Kondo
    Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Japan
  • Takaaki Hayashi
    Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Tokyo, Japan
  • Kei Shinoda
    Department of Ophthalmology, Teikyo University School of Medicine, Itabashi-ku, Tokyo, Japan
  • Shigeki Machida
    Department of Ophthalmology, Dokkyo Medical University Koshigaya Hospital, Koshigaya, Saitama, Japan
    Department of Ophthalmology, Iwate Medical University School of Medicine, Morioka, Iwate, 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
  • Takeshi Iwata
    Division of Molecular and Cellular Biology, 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
  • Footnotes
    Commercial Relationships   Kaoru Fujinami, None; Shuhei Kameya, None; Shinji Ueno, None; Mineo Kondo, None; Takaaki Hayashi, None; Kei Shinoda, None; Shigeki Machida, None; Yozo Miyake, None; Takeshi Iwata, None; Kazushige Tsunoda, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 125. doi:
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      Kaoru Fujinami, Shuhei Kameya, Shinji Ueno, Mineo Kondo, Takaaki Hayashi, Kei Shinoda, Shigeki Machida, Yozo Miyake, Takeshi Iwata, Kazushige Tsunoda; Japan Occult Macular Dystrophy Project: Association of Genotype and Photoreceptor Architecture. Invest. Ophthalmol. Vis. Sci. 2016;57(12):125.

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

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Abstract

Purpose : To determine the clinical and molecular genetic characteristics of Japanese cohort with occult macular dystrophy (OMD) in a multi-central study.

Methods : Twenty-three patients from 21 families with the clinical diagnosis with OMD were recruited from ten institutes over Japan. Full medical history and clinical examinations including spectral-domain optic coherence tomography (SD-OCT) were undertaken. Patients were classified into one of the two groups based on the SD-OCT findings; classical group showing both blurring of photoreceptor ellipsoid zone and absence of interdigitation zone; and non-classical group lacking at least one of these two features. Primal exome sequencing with targeted analysis and in silico pathogenicity evaluation were performed for mutation detection. Statistical association between architectural phenotype classification and genotype classification (presence of pathogenic RP1L1 variants) was investigated.

Results : There were 12 families with the classical SD-OCT findings and 9 with non-classical findings. Nine pathogenic RP1L1 missense variants were identified in 12 families (57%) including three previously reported variants (p.R45W, p.S1199C, p.G1200A) and six novel variants (p.G221R, p.T1194M, p.T1196I, p.G1200D, p.G1200V, p.V1201G). A novel homozygous frameshift variant with premature termination (c.6063delC, p.D2021EfsX3) was found in a patient. Statistically significant association between architectural phenotype and genotype was revealed.

Conclusions : The spectrum of morphologic phenotype and pathogenic RP1L1 variants was documented in a nation-wide Japanese cohort with OMD. Association of the architectural phenotype and genotype indicates two types of pathophysiology underlying the clinical presentation of OMD; “hereditary” OMD including RP1L1-retinopathy with the classical phenotype and OMD-like syndrome (progressive occult maculopathy).

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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