A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?
Mol Vis
; 18: 1147-55, 2012.
Article
em En
| MEDLINE
| ID: mdl-22605925
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Reflexo
/
Retina
/
Retinose Pigmentar
/
Doenças Assintomáticas
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Mol Vis
Assunto da revista:
BIOLOGIA MOLECULAR
/
OFTALMOLOGIA
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Dinamarca