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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Main Authors: Manami Misawa, Hironobu Tampo, Shinji Makino
Format: Article
Language:English
Published: Wiley 2022-01-01
Series:Case Reports in Ophthalmological Medicine
Online Access:http://dx.doi.org/10.1155/2022/8136115
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author Manami Misawa
Hironobu Tampo
Shinji Makino
author_facet Manami Misawa
Hironobu Tampo
Shinji Makino
author_sort Manami Misawa
collection DOAJ
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 doaj-art-e90ea4089c594adb9c5135f07a3d5f1e2025-08-20T02:21:53ZengWileyCase Reports in Ophthalmological Medicine2090-67302022-01-01202210.1155/2022/8136115Atypical Focal Choroidal Excavation with Macular Hole in a Patient with Alagille SyndromeManami Misawa0Hironobu Tampo1Shinji Makino2Department of OphthalmologyDepartment of OphthalmologyDepartment of OphthalmologyThis 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.http://dx.doi.org/10.1155/2022/8136115
spellingShingle Manami Misawa
Hironobu Tampo
Shinji Makino
Atypical Focal Choroidal Excavation with Macular Hole in a Patient with Alagille Syndrome
Case Reports in Ophthalmological Medicine
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
url http://dx.doi.org/10.1155/2022/8136115
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