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Atypical Focal Choroidal Excavation with Macular Hole in a Patient with Alagille Syndrome

This study is aimed at reporting a rare and unusual focal choroidal excavation with a macular hole in a patient with Alagille syndrome (AGS). A 21-year-old woman with an established early-life AGS diagnosis was referred to our hospital prior to liver transplantation. Examination revealed best-correc...

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Autores principales: Misawa, Manami, Tampo, Hironobu, Makino, Shinji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9467701/
https://www.ncbi.nlm.nih.gov/pubmed/36105151
http://dx.doi.org/10.1155/2022/8136115
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author Misawa, Manami
Tampo, Hironobu
Makino, Shinji
author_facet Misawa, Manami
Tampo, Hironobu
Makino, Shinji
author_sort Misawa, Manami
collection PubMed
description This study is aimed at reporting a rare and unusual focal choroidal excavation with a macular hole in a patient with Alagille syndrome (AGS). A 21-year-old woman with an established early-life AGS diagnosis was referred to our hospital prior to liver transplantation. Examination revealed best-corrected visual acuity of 16/20 and 20/20 in the right and left eye, respectively. Slit-lamp examination was positive for posterior embryotoxon in both eyes. Fundoscopy revealed diffuse choroidal hypopigmentation with increased visibility of the choroidal blood vessels and circumferential chorioretinal atrophy in the mid-peripheral and peripheral retina in both eyes. A full-thickness macular hole with underlying focal choroidal excavation was observed in the right eye. Optical coherence tomography through the macula confirmed choroidal excavation with a full-thickness macular hole in the right eye. To our knowledge, this is the first report describing focal choroidal excavation with a macular hole in an AGS patient.
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spelling pubmed-94677012022-09-13 Atypical Focal Choroidal Excavation with Macular Hole in a Patient with Alagille Syndrome Misawa, Manami Tampo, Hironobu Makino, Shinji Case Rep Ophthalmol Med Case Report This study is aimed at reporting a rare and unusual focal choroidal excavation with a macular hole in a patient with Alagille syndrome (AGS). A 21-year-old woman with an established early-life AGS diagnosis was referred to our hospital prior to liver transplantation. Examination revealed best-corrected visual acuity of 16/20 and 20/20 in the right and left eye, respectively. Slit-lamp examination was positive for posterior embryotoxon in both eyes. Fundoscopy revealed diffuse choroidal hypopigmentation with increased visibility of the choroidal blood vessels and circumferential chorioretinal atrophy in the mid-peripheral and peripheral retina in both eyes. A full-thickness macular hole with underlying focal choroidal excavation was observed in the right eye. Optical coherence tomography through the macula confirmed choroidal excavation with a full-thickness macular hole in the right eye. To our knowledge, this is the first report describing focal choroidal excavation with a macular hole in an AGS patient. Hindawi 2022-09-05 /pmc/articles/PMC9467701/ /pubmed/36105151 http://dx.doi.org/10.1155/2022/8136115 Text en Copyright © 2022 Manami Misawa et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Misawa, Manami
Tampo, Hironobu
Makino, Shinji
Atypical Focal Choroidal Excavation with Macular Hole in a Patient with Alagille Syndrome
title Atypical Focal Choroidal Excavation with Macular Hole in a Patient with Alagille Syndrome
title_full Atypical Focal Choroidal Excavation with Macular Hole in a Patient with Alagille Syndrome
title_fullStr Atypical Focal Choroidal Excavation with Macular Hole in a Patient with Alagille Syndrome
title_full_unstemmed Atypical Focal Choroidal Excavation with Macular Hole in a Patient with Alagille Syndrome
title_short Atypical Focal Choroidal Excavation with Macular Hole in a Patient with Alagille Syndrome
title_sort atypical focal choroidal excavation with macular hole in a patient with alagille syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9467701/
https://www.ncbi.nlm.nih.gov/pubmed/36105151
http://dx.doi.org/10.1155/2022/8136115
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