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Optic atrophy and negative electroretinogram in a patient associated with a novel OPA1 mutation

  • Makoto NakamuraEmail author
  • Yozo Miyake
Letter to the Editor

Dear Editor:

In 1992, Weleber and Miyake described two families with optic disc atrophy whose full-field rod-cone electroretinogram (ERG) had a negative configuration, i.e. the amplitude of the b-wave was smaller than that of the a-wave [4]. The patients developed a reduction of central vision in the 2nd to 3rd decade of life with pericentral or centrocecal scotomas. They had normal to mildly reduced scotopic and photopic b-wave amplitudes without other retinal abnormalities. The families showed a dominantly inherited pattern. Although dominant optic atrophy (ADOA) was a well-known disorder characterized by optic atrophy and autosomal dominant inheritance [3], it was generally believed that patients with ADOA had normal full-field ERG responses [3, 5], and no patient had been reported with a combination of optic atrophy and negative ERGs. Therefore, at that time, Weleber and Miyake suggested that this was a new genetic disorder [4].

Thereafter, we examined two additional unrelated...

Keywords

Optic atrophy Negative electroretinogram OPA1 gene Mutation Molecular biology 

Notes

Acknowledgements

This study was supported by a Grant-in-Aid for Scientific Research (Dr. Nakamura, C16591746) from The Ministry of Education, Science, Sports and Culture, Japan.

References

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Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  1. 1.Department of OphthalmologyNagoya University Graduate School of MedicineNagoyaJapan

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