Abstract：
UNASSIGNED: 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.
UNASSIGNED: Case report.
UNASSIGNED: 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.
UNASSIGNED: 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.
This case report highlights the presence of focal choroidal excavation and unilateral macular atrophy in a patient with Alagille syndrome. The genetic analysis identified a pathogenic variant in the JAG1 gene.
UNASSIGNED: Case report.
UNASSIGNED: 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.
UNASSIGNED: 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.
This case report highlights the presence of focal choroidal excavation and unilateral macular atrophy in a patient with Alagille syndrome. The genetic analysis identified a pathogenic variant in the JAG1 gene.
摘要：
■Alagille综合征（AGS）是一种多系统疾病，包括眼部表现。最近,后段发现的频率很高，包括黄斑改变,已被报道。该出版物旨在报告JAG1相关AGS患者的黄斑萎缩和局灶性脉络膜开挖的异常发现。
■病例报告。
■本出版物描述了一名7岁男性患有Alagille综合征（AGS）的局灶性脉络膜凹陷（FCE）和单侧黄斑萎缩的非典型表现。遗传分析显示JAG1基因中存在致病性变异。眼科检查和影像学表现为AGS的特征性眼部表现，包括后胚毒素,脉络膜视网膜萎缩,脉络膜变薄。
■FCE在AGS中的存在并不常见，和潜在的机制仍然不清楚。需要进一步探索类似病例，以更好地了解AGS和FCE患者的演变和视觉预后。
本病例报告强调了一名Alagille综合征患者存在局灶性脉络膜凹陷和单侧黄斑萎缩。遗传分析确定了JAG1基因中的致病变体。
■病例报告。
■本出版物描述了一名7岁男性患有Alagille综合征（AGS）的局灶性脉络膜凹陷（FCE）和单侧黄斑萎缩的非典型表现。遗传分析显示JAG1基因中存在致病性变异。眼科检查和影像学表现为AGS的特征性眼部表现，包括后胚毒素,脉络膜视网膜萎缩,脉络膜变薄。
■FCE在AGS中的存在并不常见，和潜在的机制仍然不清楚。需要进一步探索类似病例，以更好地了解AGS和FCE患者的演变和视觉预后。
本病例报告强调了一名Alagille综合征患者存在局灶性脉络膜凹陷和单侧黄斑萎缩。遗传分析确定了JAG1基因中的致病变体。
