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

Schatz P, Bregnhøj J, Arvidsson H, Sharon D, Mizrahi-Meissonnier L, Sander B, Grønskov K, Larsen M - Mol. Vis. (2012)

Bottom Line: 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.TLR was found for the first time, to the best of our knowledge, in a male subject.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Glostrup Hospital, University of Copenhagen, Denmark. patrik.schatz@med.lu.se

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.

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Related in: MedlinePlus

Dark adaptometry (lower left panel), optical coherence tomography (upper left panel), and multifocal electroretinography (upper right panel) in the male patient with a tapetal-like reflex, demonstrating no obvious abnormality of retinal function or structure. The following abbreviations apply: cd is short for candela, m2 is short for square meter, ms is short for millisecond and nV is short for nanovolt.
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f3: Dark adaptometry (lower left panel), optical coherence tomography (upper left panel), and multifocal electroretinography (upper right panel) in the male patient with a tapetal-like reflex, demonstrating no obvious abnormality of retinal function or structure. The following abbreviations apply: cd is short for candela, m2 is short for square meter, ms is short for millisecond and nV is short for nanovolt.

Mentions: Fundus autofluorescence (Figure 2), dark adaptometry (Figure 3, lower left panel), optical coherence tomography (OCT; Figure 3, upper left panel), and mfERG (Figure 3, upper right panel) were normal. FfERG was within normal limits after the standard 30 min dark adaptation; however, rod and cone responses increased by >50% each after prolonged 24 h dark adaptation (Figure 4, Table 1).


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

Schatz P, Bregnhøj J, Arvidsson H, Sharon D, Mizrahi-Meissonnier L, Sander B, Grønskov K, Larsen M - Mol. Vis. (2012)

Dark adaptometry (lower left panel), optical coherence tomography (upper left panel), and multifocal electroretinography (upper right panel) in the male patient with a tapetal-like reflex, demonstrating no obvious abnormality of retinal function or structure. The following abbreviations apply: cd is short for candela, m2 is short for square meter, ms is short for millisecond and nV is short for nanovolt.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3351408&req=5

f3: Dark adaptometry (lower left panel), optical coherence tomography (upper left panel), and multifocal electroretinography (upper right panel) in the male patient with a tapetal-like reflex, demonstrating no obvious abnormality of retinal function or structure. The following abbreviations apply: cd is short for candela, m2 is short for square meter, ms is short for millisecond and nV is short for nanovolt.
Mentions: Fundus autofluorescence (Figure 2), dark adaptometry (Figure 3, lower left panel), optical coherence tomography (OCT; Figure 3, upper left panel), and mfERG (Figure 3, upper right panel) were normal. FfERG was within normal limits after the standard 30 min dark adaptation; however, rod and cone responses increased by >50% each after prolonged 24 h dark adaptation (Figure 4, Table 1).

Bottom Line: 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.TLR was found for the first time, to the best of our knowledge, in a male subject.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Glostrup Hospital, University of Copenhagen, Denmark. patrik.schatz@med.lu.se

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.

Show MeSH
Related in: MedlinePlus