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

Schatz, Patrik LU ; Bregnhoj, Jesper; Arvidsson, Henrik; Sharon, Dror; Mizrahi-Meissonnier, Liliana; Sander, Birgit; Gronskov, Karen and Larsen, Michael (2012) In Molecular Vision 18(119-20). p.1147-1155
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,... (More)
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. (Less)
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author
organization
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type
Contribution to journal
publication status
published
subject
in
Molecular Vision
volume
18
issue
119-20
pages
1147 - 1155
publisher
Molecular Vision
external identifiers
  • wos:000304435500002
  • scopus:84863300242
ISSN
1090-0535
language
English
LU publication?
yes
id
67dcc524-d4e5-4b0a-971f-6994af4cb6c3 (old id 2809448)
alternative location
http://www.molvis.org/molvis/v18/a120/mv-v18-a120-schatz.pdf
date added to LUP
2012-07-03 10:23:26
date last changed
2017-01-01 05:27:57
@article{67dcc524-d4e5-4b0a-971f-6994af4cb6c3,
  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.},
  author       = {Schatz, Patrik and Bregnhoj, Jesper and Arvidsson, Henrik and Sharon, Dror and Mizrahi-Meissonnier, Liliana and Sander, Birgit and Gronskov, Karen and Larsen, Michael},
  issn         = {1090-0535},
  language     = {eng},
  number       = {119-20},
  pages        = {1147--1155},
  publisher    = {Molecular Vision},
  series       = {Molecular Vision},
  title        = {A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?},
  volume       = {18},
  year         = {2012},
}