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Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene)

  1. Patrik Schatz1,
  2. Magnus Abrahamson2,
  3. Louise Eksandh1,
  4. Vesna Ponjavic1,
  5. Sten Andréasson1

Article first published online: 26 SEP 2003

DOI: 10.1034/j.1600-0420.2003.00134.x

Issue

Acta Ophthalmologica Scandinavica

Acta Ophthalmologica Scandinavica

Volume 81, Issue 5, pages 500–507, October 2003

Additional Information

How to Cite

Schatz, P., Abrahamson, M., Eksandh, L., Ponjavic, V. and Andréasson, S. (2003), Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene). Acta Ophthalmologica Scandinavica, 81: 500–507. doi: 10.1034/j.1600-0420.2003.00134.x

Author Information

  1. 1

    Department of Ophthalmology, University Hospital, Lund, Sweden

  2. 2

    Department of Clinical Chemistry, University Hospital, Lund, Sweden

* Patrik Schatz MD Department of Ophthalmology Lund University Hospital 221 85 Lund Sweden Tel: + 46 46 17 14 17 Fax: + 46 46 211 50 74 Email: patrik.schatz@telia.com

Publication History

  1. Issue published online: 26 SEP 2003
  2. Article first published online: 26 SEP 2003
  3. Received on February 6th, 2003. Accepted on June 5th, 2003.

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Keywords:

  • peripherin;
  • retinitis pigmentosa;
  • maculopathy;
  • mfERG;
  • OCT

Abstract.

Purpose: To describe the phenotype using electroretinography and optical coherence tomography (OCT) in members of two families with different mutations in RDS.

Methods: DNA was extracted from blood samples and used for mutation screening by denaturing gradient gel electrophoresis (DGGE) and nucleotide sequencing of RDS exons. Patients were examined with clinical evaluation, full-field electroretinography (ERG), multifocal electroretinography (mfERG) and OCT.

Results: An Arg-46 → stop codon conversion and a Ser-125 → Leu substitution were found, respectively, in affected members of the two families. Phenotypes included retinitis pigmentosa, central areolar choroidal dystrophy, macular dystrophy and adult vitelliform maculopathy. The vitelliform lesion was clearly delineated on OCT, but mfERG showed preserved function. Optical coherence tomography showed attenuation of retinal reflectivity in two cases.

Conclusion: By combining traditional investigations with mfERG and OCT, we were able to obtain a more refined evaluation of contributing macular and generalized retinal dysfunction, respectively, in patients with hereditary retinal disease.

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