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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 orcid ; 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
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organization
publishing date
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
2016-04-01 13:05:38
date last changed
2022-01-27 17:17:40
@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?}},
  url          = {{http://www.molvis.org/molvis/v18/a120/mv-v18-a120-schatz.pdf}},
  volume       = {{18}},
  year         = {{2012}},
}