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: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-01-01
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| Series: | Case Reports in Ophthalmological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2022/8136115 |
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| Summary: | 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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| ISSN: | 2090-6730 |