Atypical Focal Choroidal Excavation with Macular Hole in a Patient with Alagille Syndrome. (5th September 2022)

• Record Type: Journal Article
• Authors: Misawa, Manami; Tampo, Hironobu; Makino, Shinji
• Other Names: Giusti Cristiano Academic Editor.
• Is Part Of: Case reports in ophthalmological medicine. Volume 2022(2022)
• Publication Date: 2022-09-05
• Subjects: Ophthalmology -- Periodicals; Eye -- Diseases -- Periodicals; Ophthalmology; Eye Diseases; Eye -- Diseases; Ophthalmology; Electronic journals; Periodicals; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 617.7
• DOI: 10.1155/2022/8136115
• Languages: English
• ISSNs: 2090-6722

Abstract

Abstract : 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.