Documenta Ophthalmologica

, Volume 107, Issue 1, pp 3–11 | Cite as

RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy

  • Makoto Nakamura
  • Jason Skalet
  • Yozo Miyake


The aim of this study was to analyze the RDH5 gene in patients with fundus albipunctatus with and without macular dystrophy, and correlate the identified mutations with the electrophysiological results. Twenty-one patients from 19 unrelated Japanese families with fundus albipunctatus were examined. Ten unrelated patients had macular dystrophy. In 18 patients, either a homozygous or a compound heterozygous mutation in the RDH5 gene was identified. The bright-flash, mixed rod-cone ERG had a negative configuration with reduced a-wave amplitudes after a short period of dark-adaptation (20 or 30 min). After a prolonged dark-adaptation period (2 or 3 h), the waveform attained normal amplitudes in patients without macular dystrophy but the a-waves were still subnormal in patients with macular dystrophy. The photopic ERG responses were significantly reduced in patients with macular dystrophy, indicating that they also had cone dystrophy. The photopic ERGs were reduced in only some of the patients without macular dystrophy. In patients without macular dystrophy, the scotopic b-wave amplitudes were nonrecordable or significantly reduced after a short dark-adaptation period but then improved to normal levels. However, they did not fully recover in some patients with macular dystrophy. Three patients with macular dystrophy in whom a RDH5 gene mutation could not be detected by our routine method had atypical ERG responses. We conclude that RDH5 gene mutations cause a progressive cone dystrophy or macular dystrophy as well as night blindness. The clinical phenotype including electrophysiological responses varied among patients with the RDH5 gene mutations.

cone dystrophy fundus albipunctatus macular dystrophy molecular genetics RDH5 gene 


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Copyright information

© Kluwer Academic Publishers 2003

Authors and Affiliations

  • Makoto Nakamura
    • 1
  • Jason Skalet
    • 1
  • Yozo Miyake
    • 1
  1. 1.Department of OphthalmologyNagoya University School of MedicineShowa-ku, NagoyaJapan

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