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Elderly case of pseudo-unilateral occult macular dystrophy with Arg45Trp mutation in RP1L1 gene

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Abstract

Purpose

To report a case of pseudo-unilateral occult macular dystrophy (OMD) with an Arg45Trp mutation in the RP1L1 gene and had unilateral functional changes for about 9 years.

Case report

A 64-year-old woman with a decimal visual acuity of 1.0 in both eyes complained about difficulties with visual tasks because of presbyopia. At the age of 65 years, her visual acuity in the left eye decreased to 0.2, while that in the right eye was 0.7. The fundus of both eyes was normal except for drusen. After 10 years and at the age of 75 years, her visual acuity in the right eye decreased to 0.3. Focal macular electroretinograms (ERGs) at this time were severely attenuated in both eyes, while the full-field ERGs were within normal limits. Ophthalmoscopy showed that the fundus of both eyes was still normal. Genetic analysis revealed a heterozygous mutation, Arg45Trp, in the RP1L1 gene.

Conclusions

These findings indicate that the phenotype in some cases of OMD with an Arg45Trp mutation in the RP1L1 gene can be unilateral for a considerable period.

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Acknowledgments

All authors declare that they have no conflict of interest. This study was supported by grants from the Ministry of Health, Labour and Welfare of Japan and the Vehicle Racing Commemorative Foundation.

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Authors and Affiliations

  1. Department of Ophthalmology, Osaka Medical College, 2-7 Daigaku-machi, Takatsuki, Osaka, 569-8686, Japan

    Takashi Okuno, Jun Sugasawa, Hidehiro Oku & Tsunehiko Ikeda

  2. Department of Ophthalmology, The Jikei University School of Medicine, 3-25-8 Nishi-Shinbashi, Minato-ku, Tokyo, 105-8461, Japan

    Takaaki Hayashi & Hiroshi Tsuneoka

  3. Department of Molecular Genetics, Institute of DNA Medicine, The Jikei University School of Medicine, 3-25-8 Nishi-Shinbashi, Minato-ku, Tokyo, 105-8461, Japan

    Hisashi Yamada

Authors
  1. Takashi Okuno
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  2. Takaaki Hayashi
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  3. Jun Sugasawa
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  4. Hidehiro Oku
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  5. Hisashi Yamada
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  6. Hiroshi Tsuneoka
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  7. Tsunehiko Ikeda
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Corresponding author

Correspondence to Takashi Okuno.

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Okuno, T., Hayashi, T., Sugasawa, J. et al. Elderly case of pseudo-unilateral occult macular dystrophy with Arg45Trp mutation in RP1L1 gene. Doc Ophthalmol 127, 141–146 (2013). https://doi.org/10.1007/s10633-013-9384-z

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  • DOI: https://doi.org/10.1007/s10633-013-9384-z

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