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Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa

PURPOSE: To report changes in the tapetal-like reflex in a female carrier of RPGR ORF15 c.3395delA X-linked retinitis pigmentosa (XLRP) between examinations at 16 and 22 years of age, and to report the observation that the tapetal-like reflex faded due to exposure to daylight and reappeared with pro...

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Autores principales: Bregnhøj, Jesper, Al-Hamdani, Sermed, Sander, Birgit, Larsen, Michael, Schatz, Patrik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4063355/
https://www.ncbi.nlm.nih.gov/pubmed/24959064
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author Bregnhøj, Jesper
Al-Hamdani, Sermed
Sander, Birgit
Larsen, Michael
Schatz, Patrik
author_facet Bregnhøj, Jesper
Al-Hamdani, Sermed
Sander, Birgit
Larsen, Michael
Schatz, Patrik
author_sort Bregnhøj, Jesper
collection PubMed
description PURPOSE: To report changes in the tapetal-like reflex in a female carrier of RPGR ORF15 c.3395delA X-linked retinitis pigmentosa (XLRP) between examinations at 16 and 22 years of age, and to report the observation that the tapetal-like reflex faded due to exposure to daylight and reappeared with prolonged dark adaptation at 22 years of age. METHODS: Clinical examination, kinetic Goldmann perimetry, dark adaptometry, fundus autofluorescence photography, spectral domain optical coherence tomography (SD-OCT), full-field electroretinography (ffERG), and multifocal electroretinography (mfERG) were performed. RESULTS: A female carrier of RPGR XLRP presented with a tapetal-like reflex at age 16. At age 22, the tapetal-like reflex was absent upon examination in daylight; however, the reflex reappeared after 12 h of dark adaptation. Fundus autofluorescence was unremarkable and did not change after prolonged dark adaptation. Full-field electroretinography and dark adaptometry at age 22 demonstrated reduced rod and cone function compared to at age 16. CONCLUSIONS: Dark adaptation before fundus photography may enable the detection of a tapetal-like reflex where it is otherwise invisible. The light-dependent fluctuation of a disease-related substance in the photoreceptors should prompt further study of the potential role of light as a modulator of the progression of RPGR XLRP.
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spelling pubmed-40633552014-06-23 Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa Bregnhøj, Jesper Al-Hamdani, Sermed Sander, Birgit Larsen, Michael Schatz, Patrik Mol Vis Research Article PURPOSE: To report changes in the tapetal-like reflex in a female carrier of RPGR ORF15 c.3395delA X-linked retinitis pigmentosa (XLRP) between examinations at 16 and 22 years of age, and to report the observation that the tapetal-like reflex faded due to exposure to daylight and reappeared with prolonged dark adaptation at 22 years of age. METHODS: Clinical examination, kinetic Goldmann perimetry, dark adaptometry, fundus autofluorescence photography, spectral domain optical coherence tomography (SD-OCT), full-field electroretinography (ffERG), and multifocal electroretinography (mfERG) were performed. RESULTS: A female carrier of RPGR XLRP presented with a tapetal-like reflex at age 16. At age 22, the tapetal-like reflex was absent upon examination in daylight; however, the reflex reappeared after 12 h of dark adaptation. Fundus autofluorescence was unremarkable and did not change after prolonged dark adaptation. Full-field electroretinography and dark adaptometry at age 22 demonstrated reduced rod and cone function compared to at age 16. CONCLUSIONS: Dark adaptation before fundus photography may enable the detection of a tapetal-like reflex where it is otherwise invisible. The light-dependent fluctuation of a disease-related substance in the photoreceptors should prompt further study of the potential role of light as a modulator of the progression of RPGR XLRP. Molecular Vision 2014-06-19 /pmc/articles/PMC4063355/ /pubmed/24959064 Text en Copyright © 2014 Molecular Vision. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed.
spellingShingle Research Article
Bregnhøj, Jesper
Al-Hamdani, Sermed
Sander, Birgit
Larsen, Michael
Schatz, Patrik
Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa
title Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa
title_full Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa
title_fullStr Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa
title_full_unstemmed Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa
title_short Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa
title_sort reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of rpgr orf15 x-linked retinitis pigmentosa
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4063355/
https://www.ncbi.nlm.nih.gov/pubmed/24959064
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