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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Format: | Article |
Language: | English |
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Karger Publishers
2020-02-01
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Series: | Case Reports in Ophthalmology |
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Online Access: | https://www.karger.com/Article/FullText/505948 |
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author | Kathrine O. Eriksen Øystein Kalsnes Jørstad |
author_facet | Kathrine O. Eriksen Øystein Kalsnes Jørstad |
author_sort | Kathrine O. Eriksen |
collection | DOAJ |
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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format | Article |
id | doaj.art-8c371e84837844d1824fa35bb9b9db7c |
institution | Directory Open Access Journal |
issn | 1663-2699 |
language | English |
last_indexed | 2024-12-24T05:24:27Z |
publishDate | 2020-02-01 |
publisher | Karger Publishers |
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series | Case Reports in Ophthalmology |
spelling | doaj.art-8c371e84837844d1824fa35bb9b9db7c2022-12-21T17:13:22ZengKarger PublishersCase Reports in Ophthalmology1663-26992020-02-01111798410.1159/000505948505948Multiple Vitelliform Lesions as a Retinal Manifestation of Alport SyndromeKathrine O. EriksenØystein Kalsnes JørstadAlport 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.https://www.karger.com/Article/FullText/505948alport syndromemultiple vitelliform lesionsretinatype iv collagenbruch’s membrane |
spellingShingle | Kathrine O. Eriksen Øystein Kalsnes Jørstad Multiple Vitelliform Lesions as a Retinal Manifestation of Alport Syndrome Case Reports in Ophthalmology alport syndrome multiple vitelliform lesions retina type iv collagen bruch’s membrane |
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 | alport syndrome multiple vitelliform lesions retina type iv collagen bruch’s membrane |
url | https://www.karger.com/Article/FullText/505948 |
work_keys_str_mv | AT kathrineoeriksen multiplevitelliformlesionsasaretinalmanifestationofalportsyndrome AT øysteinkalsnesjørstad multiplevitelliformlesionsasaretinalmanifestationofalportsyndrome |