A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?

Research output: Contribution to journalArticle

Abstract

Purpose: To report on the retinal function and structure in a 37-year-old male who presented with a tapetal-like reflex (TLR) indistinguishable from that seen in female carriers of X-linked retinitis pigmentosa (XLRP). Methods: Clinical examination included dark adaptometry, full-field electroretinography (ERG), multifocal ERG, optical coherence tomography, and fundus autofluorescence photography. Molecular genetic testing included screening for known mutations in autosomal dominant, autosomal recessive, and X linked retinitis pigmentosa (RP) genes with a commercially available chip, and sequencing analysis of retinitis pigmentosa GTPase regulator (RPGR)-open reading frame 15 (ORF15). Results: Fundus examination revealed a bilateral TLR, which is typical of female carriers of XLRP. Imaging studies and electrophysiological testing was unremarkable, except for a significant increase in full-field ERG amplitudes after prolonged dark adaptation as compared to after standard dark adaptation. Mutation screening was negative. Conclusions: TLR was found for the first time, to the best of our knowledge, in a male subject. There were no definitive signs of retinal degeneration, suggesting that this reflex in itself is not necessarily a precursor of the retinal degeneration that can be seen in female carriers of XLRP.

Details

Authors
  • Patrik Schatz
  • Jesper Bregnhoj
  • Henrik Arvidsson
  • Dror Sharon
  • Liliana Mizrahi-Meissonnier
  • Birgit Sander
  • Karen Gronskov
  • Michael Larsen
Organisations
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Biochemistry and Molecular Biology
Original languageEnglish
Pages (from-to)1147-1155
JournalMolecular Vision
Volume18
Issue number119-20
Publication statusPublished - 2012
Publication categoryResearch
Peer-reviewedYes