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Multiple Vitelliform Lesions as a Retinal Manifestation of Alport Syndrome

Alport syndrome is associated with various ocular phenotypic features, including several retinal manifestations. The purpose of this case report was to describe a case of multiple vitelliform lesions in Alport syndrome. This particular finding has, to our knowledge, not been reported previously. A 6...

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Autores principales: Eriksen, Kathrine O., Jørstad, Øystein Kalsnes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7098359/
https://www.ncbi.nlm.nih.gov/pubmed/32231557
http://dx.doi.org/10.1159/000505948
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author Eriksen, Kathrine O.
Jørstad, Øystein Kalsnes
author_facet Eriksen, Kathrine O.
Jørstad, Øystein Kalsnes
author_sort Eriksen, Kathrine O.
collection PubMed
description Alport syndrome is associated with various ocular phenotypic features, including several retinal manifestations. The purpose of this case report was to describe a case of multiple vitelliform lesions in Alport syndrome. This particular finding has, to our knowledge, not been reported previously. A 63-year-old man with known Alport syndrome presented with symptomatic, bilateral anterior lenticonus. Fundoscopic examination revealed multiple vitelliform lesions, which were symmetrically distributed at the posterior poles. Additional retinal findings included an irregular foveal contour and central macular thinning in both eyes, as well as a multilayered retinoschisis in the left eye. The underlying pathophysiology of the vitelliform lesions may be a dysfunctional Bruch's membrane.
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spelling pubmed-70983592020-03-30 Multiple Vitelliform Lesions as a Retinal Manifestation of Alport Syndrome Eriksen, Kathrine O. Jørstad, Øystein Kalsnes Case Rep Ophthalmol Case Report Alport syndrome is associated with various ocular phenotypic features, including several retinal manifestations. The purpose of this case report was to describe a case of multiple vitelliform lesions in Alport syndrome. This particular finding has, to our knowledge, not been reported previously. A 63-year-old man with known Alport syndrome presented with symptomatic, bilateral anterior lenticonus. Fundoscopic examination revealed multiple vitelliform lesions, which were symmetrically distributed at the posterior poles. Additional retinal findings included an irregular foveal contour and central macular thinning in both eyes, as well as a multilayered retinoschisis in the left eye. The underlying pathophysiology of the vitelliform lesions may be a dysfunctional Bruch's membrane. S. Karger AG 2020-02-12 /pmc/articles/PMC7098359/ /pubmed/32231557 http://dx.doi.org/10.1159/000505948 Text en Copyright © 2020 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Case Report
Eriksen, Kathrine O.
Jørstad, Øystein Kalsnes
Multiple Vitelliform Lesions as a Retinal Manifestation of Alport Syndrome
title Multiple Vitelliform Lesions as a Retinal Manifestation of Alport Syndrome
title_full Multiple Vitelliform Lesions as a Retinal Manifestation of Alport Syndrome
title_fullStr Multiple Vitelliform Lesions as a Retinal Manifestation of Alport Syndrome
title_full_unstemmed Multiple Vitelliform Lesions as a Retinal Manifestation of Alport Syndrome
title_short Multiple Vitelliform Lesions as a Retinal Manifestation of Alport Syndrome
title_sort multiple vitelliform lesions as a retinal manifestation of alport syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7098359/
https://www.ncbi.nlm.nih.gov/pubmed/32231557
http://dx.doi.org/10.1159/000505948
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