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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 in a healthy male patient demonstrating the presence of bilateral tapetal-like reflex.
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f1: Fundus photography in a healthy male patient demonstrating the presence of bilateral tapetal-like reflex.

Mentions: A now 37-year-old patient presented at our department more than 10 years before after a trauma to the head region. In a routine examination, we discovered unusual yellowish reflexes scattered in both fundi, extending from the perimacular region into the midperiphery (Figure 1). Peripheral retina was unremarkable, specifically there was no retinoschisis. The patient had two healthy brothers and a healthy daughter. All family members, including mother and father, had normal fundi and fundus photographs (except for presumably age-related scattered drusen around the vascular arcades and in the posterior pole in the mother), full vision, and no visual symptoms. There was no family history of any ophthalmic or other disease, except a reported cataract in a grandparent. The patient was asymptomatic and had a best corrected visual acuity of 1.0 (decimal acuity scale) in both eyes. FfERG was performed to rule out a retinal degeneration, and was found to be normal.


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 in a healthy male patient demonstrating the presence of bilateral tapetal-like reflex.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

f1: Fundus photography in a healthy male patient demonstrating the presence of bilateral tapetal-like reflex.
Mentions: A now 37-year-old patient presented at our department more than 10 years before after a trauma to the head region. In a routine examination, we discovered unusual yellowish reflexes scattered in both fundi, extending from the perimacular region into the midperiphery (Figure 1). Peripheral retina was unremarkable, specifically there was no retinoschisis. The patient had two healthy brothers and a healthy daughter. All family members, including mother and father, had normal fundi and fundus photographs (except for presumably age-related scattered drusen around the vascular arcades and in the posterior pole in the mother), full vision, and no visual symptoms. There was no family history of any ophthalmic or other disease, except a reported cataract in a grandparent. The patient was asymptomatic and had a best corrected visual acuity of 1.0 (decimal acuity scale) in both eyes. FfERG was performed to rule out a retinal degeneration, and was found to be normal.

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