Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data

  • Erika Wegscheider
  • Markus N. Preising
  • Birgit Lorenz
Clinical Investigation
First Online:
Received:
Revised:
Accepted:

Abstract

Purpose

To describe fundus autofluorescence (AF) in carriers of X-linked retinitis pigmentosa (XLRP) associated with mutations in RPGR (RP3), and to compare the findings on AF with ophthalmoscopy and with electrophysiological and psychophysical data.

Methods

Eleven carriers from two families with XLRP and mutations in RPGR underwent clinical examination including fundus photography, AF, full-field electroretinography, Goldmann kinetic perimetry and two-colour threshold perimetry (2CT perimetry).

Results

An abnormal AF pattern was found in 9 of 11 carriers, with a radial pattern in 6 of 11. In 2CT perimetry patchy rod and cone sensitivity losses were seen in 7 of 8 carriers. Rods tended to be more affected than cones. The areas of sensitivity loss showed some correspondence with the abnormalities seen on AF.

Conclusion

AF had a specific pattern in 9 of 11 carriers from two families with mutations in RPGR. The result was independent of the family investigated. The radial pattern may be explained by random X-inactivation early during embryogenesis subsequently preserved in all daughter cells and the centrifugal radial growth pattern of the developing neuroretina. AF may prove to be a rapid and easy clinical test to identify carriers of RP3.

Keywords

Retinal Pigment Epithelium Retinitis Pigmentosa Radial Pattern Sensitivity Loss Fundus Autofluorescence 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Notes

Acknowledgments

The authors would like to thank all patients and their families for participating in the study, Birgit Langer and Ursula Biendl for excellent technical assistance, Bettina Wabbels, MD for helpful discussions on fundus autofluorescence, and Anna Madsen (Illinois) for correction of the manuscript. The study was supported by the Deutsche Forschungsgemeinschaft (DFG Lo- 457/3).

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Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Erika Wegscheider
    • 1
  • Markus N. Preising
    • 1
  • Birgit Lorenz
    • 1
  1. 1.Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics, KlinikumUniversity of RegensburgRegensburgGermany

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