title: A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Ophthalmology, Glostrup Hospital, University of Copenhagen, Denmark. patrik.schatz@med.lu.se
authors.forename: Patrik
authors.initials: P
authors.lastname: Schatz
authors.forename: Jesper
authors.initials: J
authors.lastname: Bregnhøj
authors.forename: Henrik
authors.initials: H
authors.lastname: Arvidsson
authors.forename: Dror
authors.initials: D
authors.lastname: Sharon
authors.forename: Liliana
authors.initials: L
authors.lastname: Mizrahi-Meissonnier
authors.forename: Birgit
authors.initials: B
authors.lastname: Sander
authors.forename: Karen
authors.initials: K
authors.lastname: Grønskov
authors.forename: Michael
authors.initials: M
authors.lastname: Larsen
mesh_terms: D000328:Adult; D058070:Asymptomatic Diseases; D003623:Dark Adaptation; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012018:Reflex; D012160:Retina / Q000502:physiology*; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000378:metabolism*; D012737:Sex Factors; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D014794:Visual Fields
chemical_list: D005136:Eye Proteins; C099929:RPGR protein, human