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Retinal hamartomas at different stages in a patient with tuberous sclerosis: A OCT‐SS description

Retinal astrocytic hamartoma (RAH) is a benign glial tumor that may be present in patients with tuberous sclerosis (TS), contributing to the diagnosis of this syndrome. While hamartomas identified through indirect ophthalmoscopy are often large enough to affect vessels and optic disc anatomy, RAH no...

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Autores principales: Dias, Paula Basso, Linhares, Anna Carolina Badotti, Hokazono, Kenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10659914/
https://www.ncbi.nlm.nih.gov/pubmed/38028108
http://dx.doi.org/10.1002/ccr3.8185
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author Dias, Paula Basso
Linhares, Anna Carolina Badotti
Hokazono, Kenzo
author_facet Dias, Paula Basso
Linhares, Anna Carolina Badotti
Hokazono, Kenzo
author_sort Dias, Paula Basso
collection PubMed
description Retinal astrocytic hamartoma (RAH) is a benign glial tumor that may be present in patients with tuberous sclerosis (TS), contributing to the diagnosis of this syndrome. While hamartomas identified through indirect ophthalmoscopy are often large enough to affect vessels and optic disc anatomy, RAH not detected in previous fundoscopies may become apparent in optical coherence tomography (OCT). The purpose of this report was to describe and characterize RAH with OCT with swept‐source technology (OCT‐SS), aiming to establish a more comprehensive classification for these hamartomas due to their diverse presentations. Fundus examination of a 11‐year‐old girl revealed retinal tumors in both eyes. OCT‐SS confirmed the diagnosis of TS, revealing dome‐shaped hyperreflective masses at different stages of evolution. Lesion 1: maximum thickness (MT) of 336 μm and ganglion cell layer disorganization. Lesion 2: MT of 438 μm and preserved outer plexiform layer. Lesion 3: posterior shadow, MT of 1478 μm and complete rupture of retinal anatomy. Lesion 4: MT of 342 μm and preserved retinal anatomy. OCT is a noninvasive method which assists the diagnosis of subclinical lesions and clinical characterization of TS patients.
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spelling pubmed-106599142023-11-20 Retinal hamartomas at different stages in a patient with tuberous sclerosis: A OCT‐SS description Dias, Paula Basso Linhares, Anna Carolina Badotti Hokazono, Kenzo Clin Case Rep Case Report Retinal astrocytic hamartoma (RAH) is a benign glial tumor that may be present in patients with tuberous sclerosis (TS), contributing to the diagnosis of this syndrome. While hamartomas identified through indirect ophthalmoscopy are often large enough to affect vessels and optic disc anatomy, RAH not detected in previous fundoscopies may become apparent in optical coherence tomography (OCT). The purpose of this report was to describe and characterize RAH with OCT with swept‐source technology (OCT‐SS), aiming to establish a more comprehensive classification for these hamartomas due to their diverse presentations. Fundus examination of a 11‐year‐old girl revealed retinal tumors in both eyes. OCT‐SS confirmed the diagnosis of TS, revealing dome‐shaped hyperreflective masses at different stages of evolution. Lesion 1: maximum thickness (MT) of 336 μm and ganglion cell layer disorganization. Lesion 2: MT of 438 μm and preserved outer plexiform layer. Lesion 3: posterior shadow, MT of 1478 μm and complete rupture of retinal anatomy. Lesion 4: MT of 342 μm and preserved retinal anatomy. OCT is a noninvasive method which assists the diagnosis of subclinical lesions and clinical characterization of TS patients. John Wiley and Sons Inc. 2023-11-20 /pmc/articles/PMC10659914/ /pubmed/38028108 http://dx.doi.org/10.1002/ccr3.8185 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Dias, Paula Basso
Linhares, Anna Carolina Badotti
Hokazono, Kenzo
Retinal hamartomas at different stages in a patient with tuberous sclerosis: A OCT‐SS description
title Retinal hamartomas at different stages in a patient with tuberous sclerosis: A OCT‐SS description
title_full Retinal hamartomas at different stages in a patient with tuberous sclerosis: A OCT‐SS description
title_fullStr Retinal hamartomas at different stages in a patient with tuberous sclerosis: A OCT‐SS description
title_full_unstemmed Retinal hamartomas at different stages in a patient with tuberous sclerosis: A OCT‐SS description
title_short Retinal hamartomas at different stages in a patient with tuberous sclerosis: A OCT‐SS description
title_sort retinal hamartomas at different stages in a patient with tuberous sclerosis: a oct‐ss description
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10659914/
https://www.ncbi.nlm.nih.gov/pubmed/38028108
http://dx.doi.org/10.1002/ccr3.8185
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