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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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Fundus photography demonstrating a tapetal-like reflex in a 22-year-old female carrier of X-linked retinitis pigmentosa, from the photographic archives of our clinic. The patient belongs to a known Danish X-linked retinitis pigmentosa (XLRP) family, where molecular genetic analysis has identified a disease causing single base pair deletion c.3395delA at the 3′ end of the ORF15 exon in RPGR, resulting in a premature stop codon.
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f5: Fundus photography demonstrating a tapetal-like reflex in a 22-year-old female carrier of X-linked retinitis pigmentosa, from the photographic archives of our clinic. The patient belongs to a known Danish X-linked retinitis pigmentosa (XLRP) family, where molecular genetic analysis has identified a disease causing single base pair deletion c.3395delA at the 3′ end of the ORF15 exon in RPGR, resulting in a premature stop codon.

Mentions: In a retrospective review of fundus photography in the photographic archives of our clinic we identified a bilateral TLR in a 22-year old female carrier of XLRP, belonging to a family with the single base pair deletion c.3395delA (g.ORF15+1642delA) at the 3′ end of the ORF15 exon in RPGR resulting in a premature stop codon (Figure 5) [17]. Further investigation, for example electrophysiology, was not possible at this point.


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)

Fundus photography demonstrating a tapetal-like reflex in a 22-year-old female carrier of X-linked retinitis pigmentosa, from the photographic archives of our clinic. The patient belongs to a known Danish X-linked retinitis pigmentosa (XLRP) family, where molecular genetic analysis has identified a disease causing single base pair deletion c.3395delA at the 3′ end of the ORF15 exon in RPGR, resulting in a premature stop codon.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f5: Fundus photography demonstrating a tapetal-like reflex in a 22-year-old female carrier of X-linked retinitis pigmentosa, from the photographic archives of our clinic. The patient belongs to a known Danish X-linked retinitis pigmentosa (XLRP) family, where molecular genetic analysis has identified a disease causing single base pair deletion c.3395delA at the 3′ end of the ORF15 exon in RPGR, resulting in a premature stop codon.
Mentions: In a retrospective review of fundus photography in the photographic archives of our clinic we identified a bilateral TLR in a 22-year old female carrier of XLRP, belonging to a family with the single base pair deletion c.3395delA (g.ORF15+1642delA) at the 3′ end of the ORF15 exon in RPGR resulting in a premature stop codon (Figure 5) [17]. Further investigation, for example electrophysiology, was not possible at this point.

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