Retina Department, Institute of Ophthalmology, Fundación Conde de Valenciana, Mexico City, Mexico.
Genetics Department, Hospital Infantil de México, Federico Gómez, Mexico City, Mexico.
Ophthalmic Genet. 2024 Jun;45(3):299-302. doi: 10.1080/13816810.2024.2303786. Epub 2024 Mar 25.
Alagille syndrome (AGS) is a genetic disease with multisystemic affection, including ocular manifestations. Recently, a high frequency of posterior segment findings, including macular changes, has been reported. This publication aims to report an unusual finding of macular atrophy and a focal choroidal excavation in a patient with JAG1 related AGS.
Case report.
This publication describes an atypical presentation of focal choroidal excavation (FCE) and unilateral macular atrophy in a 7-year-old male with Alagille syndrome (AGS). Genetic analysis revealed a pathogenic variant in the JAG1 gene. Ophthalmological examination and imaging findings demonstrated characteristic ocular manifestations of AGS, including posterior embryotoxon, chorioretinal atrophy, and thinning of the choroid.
The presence of FCE in AGS is uncommon, and the underlying mechanisms remain unclear. Further exploration of similar cases is necessary to better understand the evolution and visual prognosis in patients with AGS and FCE.
Alagille 综合征（AGS）是一种多系统受累的遗传性疾病，包括眼部表现。最近，有报道称后节有很高的发现频率，包括黄斑改变。本出版物旨在报告一例 JAG1 相关 AGS 患者的黄斑萎缩和局灶性脉络膜凹陷的异常发现。
病例报告。
本出版物描述了一例 7 岁男性 JAG1 相关 AGS 患者的局灶性脉络膜凹陷（FCE）和单侧黄斑萎缩的非典型表现。基因分析显示 JAG1 基因存在致病性变异。眼科检查和影像学检查结果显示出 AGS 的典型眼部表现，包括后胚胎性突、脉络膜视网膜萎缩和脉络膜变薄。
AGS 中 FCE 的存在并不常见，其潜在机制尚不清楚。需要进一步探讨类似病例，以更好地了解 FCE 患者的演变和视力预后。
