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Choroideremia carriers maintain a normal electro-oculogram (EOG)

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Abstract

Purpose

To assess the functional integrity of the retinal pigment epithelium and outer retina in choroideremia (CHM) carriers with confirmed mutations in the REP-1 gene, by recording the EOG.

Methods

The visual function of 17 choroideremia carriers ages 25–61 was assessed by determining their Snellen visual acuity and by recording the Arden ratio of the EOG. The 15 exons of the CHM gene were PCR-amplified from DNA from each of the carriers and their sequences were compared to the normal sequence to identify mutations.

Results

The 17 CHM carriers had normal logMAR visual acuity (average of 0.07: Snellen equivalent of 20/25; with no acuities lower than 20/40). The average of the Arden ratio recorded from the 17 carriers was 2.71, which is not significantly different from the average value of 2.46 recorded in our lab. Fundus examination revealed mottled areas of chorioretinal degeneration consistent with the carrier status of CHM. Mutations in the CHM gene were identified in all CHM carriers by sequencing.

Conclusions

Whereas clinical observation suggests that progressive fundus changes are present in female carriers, these carriers do not show a change in the Arden ratio of the EOG over the ages studied (25–61 years).

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Abbreviations

CHM:

Choroideremia

GTPases:

Guanosine triphosphatases

PCR:

Polymerase chain reaction

REP-1:

Rab escort protein-1

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Acknowledgements

We are grateful for the skillful technical support of Peggy Kaminski in helping to record the electro-oculograms. This study was supported in part by grant from the Foundation Fighting Blindness, USA.

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Authors and Affiliations

  1. Ocular Genetics Laboratory, University of Alberta, Edmonton, AB, Canada, T6G 2H7

    Ryan J. Yau, Christina A. Sereda, Kerry E. McTaggart, Yves Sauvé & Ian M. MacDonald

Authors
  1. Ryan J. Yau
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  2. Christina A. Sereda
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  3. Kerry E. McTaggart
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  4. Yves Sauvé
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  5. Ian M. MacDonald
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Corresponding author

Correspondence to Ian M. MacDonald.

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Yau, R.J., Sereda, C.A., McTaggart, K.E. et al. Choroideremia carriers maintain a normal electro-oculogram (EOG). Doc Ophthalmol 114, 147–151 (2007). https://doi.org/10.1007/s10633-007-9050-4

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  • DOI: https://doi.org/10.1007/s10633-007-9050-4

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