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Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium

When using spectral domain optical coherence tomography (SD-OCT) to inform the status of outer retina, we have noted discrete hyperreflective lesions extending through photoreceptor-attributable bands that have a similar presentation in multiple retinal diseases. These lesions present as either corr...

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Autores principales: Sparrow, Janet R., Parmann, Rait, Tsang, Stephen H., Allikmets, Rando, Chang, Stanley, Jauregui, Ruben
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8196415/
https://www.ncbi.nlm.nih.gov/pubmed/34115091
http://dx.doi.org/10.1167/iovs.62.7.15
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author Sparrow, Janet R.
Parmann, Rait
Tsang, Stephen H.
Allikmets, Rando
Chang, Stanley
Jauregui, Ruben
author_facet Sparrow, Janet R.
Parmann, Rait
Tsang, Stephen H.
Allikmets, Rando
Chang, Stanley
Jauregui, Ruben
author_sort Sparrow, Janet R.
collection PubMed
description When using spectral domain optical coherence tomography (SD-OCT) to inform the status of outer retina, we have noted discrete hyperreflective lesions extending through photoreceptor-attributable bands that have a similar presentation in multiple retinal diseases. These lesions present as either corrugated thickenings of interdigitation zone and ellipsoid zone bands or in later stages as rectangular or pyramidal shaped foci that extend radially through photoreceptor cell-attributable bands. In ABCA4-related and peripherin-2/RDS-disease (PRPH2/RDS), monogenic forms of retinopathy caused by mutations in proteins expressed in photoreceptor cells, these punctate lesions colocalize with fundus flecks in en face images. In fundus albipunctatus and retinitis punctata albescens, diseases caused by mutations in genes (retinol dehydrogenase 5, RDH5; and retinaldehyde-binding protein 1, RLBP1) encoding proteins of the visual cycle, these lesions manifest as white dot-like puncta. Similar aberrations in photoreceptor cell-attributable SD-OCT reflectivity layers manifest as reticular pseudodrusen (RPD) in short-wavelength fundus autofluorescence and near-infrared fundus autofluorescence fundus images and are linked to age-related macular degeneration a complex disease. Despite differences in the etiologies of retinal diseases presenting as fundus flecks, dots and RPD, underlying degenerative processes in photoreceptor cells are signified in SD-OCT scans by the loss of structural features that would otherwise define healthy photoreceptor cells at these foci.
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spelling pubmed-81964152021-06-22 Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium Sparrow, Janet R. Parmann, Rait Tsang, Stephen H. Allikmets, Rando Chang, Stanley Jauregui, Ruben Invest Ophthalmol Vis Sci Perspective When using spectral domain optical coherence tomography (SD-OCT) to inform the status of outer retina, we have noted discrete hyperreflective lesions extending through photoreceptor-attributable bands that have a similar presentation in multiple retinal diseases. These lesions present as either corrugated thickenings of interdigitation zone and ellipsoid zone bands or in later stages as rectangular or pyramidal shaped foci that extend radially through photoreceptor cell-attributable bands. In ABCA4-related and peripherin-2/RDS-disease (PRPH2/RDS), monogenic forms of retinopathy caused by mutations in proteins expressed in photoreceptor cells, these punctate lesions colocalize with fundus flecks in en face images. In fundus albipunctatus and retinitis punctata albescens, diseases caused by mutations in genes (retinol dehydrogenase 5, RDH5; and retinaldehyde-binding protein 1, RLBP1) encoding proteins of the visual cycle, these lesions manifest as white dot-like puncta. Similar aberrations in photoreceptor cell-attributable SD-OCT reflectivity layers manifest as reticular pseudodrusen (RPD) in short-wavelength fundus autofluorescence and near-infrared fundus autofluorescence fundus images and are linked to age-related macular degeneration a complex disease. Despite differences in the etiologies of retinal diseases presenting as fundus flecks, dots and RPD, underlying degenerative processes in photoreceptor cells are signified in SD-OCT scans by the loss of structural features that would otherwise define healthy photoreceptor cells at these foci. The Association for Research in Vision and Ophthalmology 2021-06-11 /pmc/articles/PMC8196415/ /pubmed/34115091 http://dx.doi.org/10.1167/iovs.62.7.15 Text en Copyright 2021 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
spellingShingle Perspective
Sparrow, Janet R.
Parmann, Rait
Tsang, Stephen H.
Allikmets, Rando
Chang, Stanley
Jauregui, Ruben
Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium
title Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium
title_full Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium
title_fullStr Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium
title_full_unstemmed Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium
title_short Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium
title_sort shared features in retinal disorders with involvement of retinal pigment epithelium
topic Perspective
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8196415/
https://www.ncbi.nlm.nih.gov/pubmed/34115091
http://dx.doi.org/10.1167/iovs.62.7.15
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