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Idiopathic, isolated fovea plana with bilateral off-centre multifocal ERGs

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Abstract

Background

The purpose of this paper is to report a case of idiopathic isolated fovea plana showing asymmetry in the multifocal electroretinogram (mfERG).

Methods

We carried out optical coherence tomography (OCT) imaging, macular pigment density measurement, genetic testing and electrophysiological testing with visual evoked potentials and mfERGs on a young, highly myopic female of Pakistani origin, who had good visual acuity and no nystagmus.

Results

OCT imaging revealed a complete absence of any foveal pit in either eye. Macular pigment density was normal and visual evoked potentials indicated normal chiasmal crossings, excluding albinism. Genetic testing revealed normal PAX6 coding data, excluding aniridia as a cause. mfERGs showed asymmetry consistent with off-centre fixation to the temporal side of the fovea in both eyes, but were otherwise normal.

Conclusion

Lack of a foveal pit is a well-known finding in conditions such as oculocutaneous albinism and PAX6 gene-related aniridia. Isolated fovea plana is less common, and this case illustrates that the absence of a foveal pit does not necessarily result in a poor visual outcome. The finding of asymmetry in the mfERG in such a case is novel, and may indicate a functional adaptation to the structure of the fovea.

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Acknowledgments

We would like to thank Professor Veronica van Heyningen for facilitating the genetic testing and for comments on the manuscript, Dr. Abdlsaed Al Abdlsaead for assistance with VEP recording and analysis, and Asim Sheikh for measuring the macular protective pigment density. We would also like to acknowledge the patience of our subject and thank her for giving up her time to undertake the various clinical investigations. This case was presented in the clinical cases session of the XLIX International Symposium of ISCEV, Quebec City, Canada, September 2011.

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Correspondence to Graeme J. Kennedy.

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McTrusty, A.D., McCulloch, D.L., Strang, N.C. et al. Idiopathic, isolated fovea plana with bilateral off-centre multifocal ERGs. Doc Ophthalmol 126, 171–176 (2013). https://doi.org/10.1007/s10633-012-9369-3

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  • DOI: https://doi.org/10.1007/s10633-012-9369-3

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