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

Mol Vis. 2012:18:1147-55. Epub 2012 May 2.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asymptomatic Diseases*
  • Dark Adaptation
  • Electroretinography
  • Eye Proteins / genetics
  • Female
  • Genetic Linkage
  • Heterozygote
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • Reflex*
  • Retina / physiology*
  • Retinitis Pigmentosa / genetics
  • Retinitis Pigmentosa / metabolism*
  • Sex Factors
  • Tomography, Optical Coherence
  • Visual Acuity
  • Visual Fields

Substances

  • Eye Proteins
  • RPGR protein, human