A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/2809448
- author
- Schatz, Patrik LU ; Bregnhoj, Jesper ; Arvidsson, Henrik ; Sharon, Dror ; Mizrahi-Meissonnier, Liliana ; Sander, Birgit ; Gronskov, Karen and Larsen, Michael
- organization
- publishing date
- 2012
- 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}}, }