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Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P)

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Abstract

Purpose

The purpose of this study was to present an atypical case of occult macular dystrophy (OMD) with bilateral chronic subfoveal serous retinal detachment (SRD).

Methods

A 53-year-old man was ophthalmologically evaluated because of decreased visual acuity in both eyes. Genomic DNA was extracted from venous blood samples. Mutational analysis of the retinitis pigmentosa 1-like 1 (RP1L1) gene was performed by Sanger sequencing.

Results

Best-corrected visual acuity (BCVA) was 0.1 logMAR in both eyes until the age of 53, after which it gradually declined. Full-field electroretinography (ERG) was unremarkable, while multifocal ERG revealed a reduced central response in both eyes. Optical coherence tomography showed subfoveal SRD in both eyes, and fundus fluorescein angiography yielded unremarkable results. His brother and cousin had similar subjective symptoms. At age 58, his logMAR BCVA was 0.532 (OD) and 0.347 (OS). He was given 23 administrations of intravitreal bevacizumab (IVB; 1.25 mg) in both eyes alternately over a 2-year period and also underwent reduced-fluence photodynamic therapy in both eyes. Two years after the first administration of IVB, a reduction in SRD was obtained, and IVB was therefore discontinued. Three years after the first administration, logMAR BCVA was 0.155 (OD) and 0.523 (OS). Mutational analysis revealed a novel heterozygous missense mutation (p.S1199P).

Conclusions

We describe in detail a case of bilateral chronic subfoveal SRD in an atypical OMD patient carrying a novel heterozygous RP1L1 mutation (p.S1199P). Our results further extend the phenotypic spectrum of RP1L1-associated OMD.

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Acknowledgments

This work was supported by grants from the Ministry of Education, Culture, Sports, Science and Technology of Japan (Grant-in-Aid for Scientific Research (C) 25462738 to TH); the Ministry of Health, Labor and Welfare of Japan (to TH); and the Vehicle Racing Commemorative Foundation (to TH and HT). We would like to thank Natsuko Kakinuma and Juhei Takahashi for performing blind measurements of CMT and Ritsuko Nakayama for providing laboratory assistance.

Conflict of interest

All authors declare no conflicts of interest. The authors have full control of all primary data, which will be made available for the journal to review upon request.

Author information

Authors and Affiliations

  1. Department of Ophthalmology, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi, 329-0431, Japan

    Hidenori Takahashi & Hidetoshi Kawashima

  2. Department of Ophthalmology, The Jikei University School of Medicine, 3-19-18 Nishi-shimbashi, Minato-ku, Tokyo, 105-8471, Japan

    Takaaki Hayashi, Hiroshi Tsuneoka, Tadashi Nakano & Satoshi Katagiri

  3. Department of Molecular Genetics, Institute of DNA Medicine, The Jikei University School of Medicine, 3-19-18 Nishi-shimbashi, Minato-ku, Tokyo, 105-8471, Japan

    Hisashi Yamada

  4. Department of Ophthalmology, Tokyo Kosei Nenkin Hospital, 5-1 Tsukudocho, Shinjuku-ku, Tokyo, 162-8543, Japan

    Yujiro Fujino

  5. Department of Ophthalmology, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan

    Yasuo Noda

  6. Department of Ophthalmology, Tokyo Teishin Hospital, 2-14-23 Fujimi, Chiyoda-ku, Tokyo, 102-8798, Japan

    Miwako Yoshimoto

Authors
  1. Hidenori Takahashi
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  2. Takaaki Hayashi
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  3. Hiroshi Tsuneoka
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  4. Tadashi Nakano
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  5. Hisashi Yamada
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  7. Yujiro Fujino
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  8. Yasuo Noda
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  10. Hidetoshi Kawashima
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Corresponding author

Correspondence to Hidenori Takahashi.

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Takahashi, H., Hayashi, T., Tsuneoka, H. et al. Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P). Doc Ophthalmol 129, 49–56 (2014). https://doi.org/10.1007/s10633-014-9443-0

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  • DOI: https://doi.org/10.1007/s10633-014-9443-0

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