Macular atrophy and focal choroidal excavation in a patient with JAG1- related alagille syndrome.

IF 1.2 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2024-06-01 Epub Date: 2024-03-25 DOI:10.1080/13816810.2024.2303786

Diego Ruiz-Chavolla, Tania Barragán-Arévalo, Daniel Cortes-Muñoz, Jhoana Sánchez-Ruiz, Juan Carlos Zenteno, Gerardo Ledesma-Gil

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引用次数: 0

Abstract

Introduction: 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.

Methods: Case report.

Results: 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.

Conclusion: 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.

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一名与 JAG1 相关的 alagille 综合征患者的黄斑萎缩和局灶性脉络膜挖掘。

简介阿拉吉尔综合征（AGS）是一种遗传性疾病，具有多系统疾病，包括眼部表现。最近有报道称，包括黄斑病变在内的后节段病变发生率很高。本文旨在报告一名与 JAG1 相关的 AGS 患者黄斑萎缩和局灶性脉络膜挖空的异常发现：方法：病例报告：结果：本论文描述了一名患有阿拉吉尔综合征（AGS）的 7 岁男性患者出现局灶性脉络膜发掘（FCE）和单侧黄斑萎缩的非典型表现。基因分析显示该患者的 JAG1 基因存在致病变异。眼科检查和影像学检查结果显示了AGS的特征性眼部表现，包括后胚胎毒性、脉络膜视网膜萎缩和脉络膜变薄：结论：在 AGS 中出现 FCE 并不常见，其潜在机制仍不清楚。有必要对类似病例进行进一步研究，以更好地了解 AGS 和 FCE 患者的演变和视觉预后。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Ophthalmic Genetics 医学-眼科学

CiteScore

2.40

自引率

8.30%

发文量

126

审稿时长

>12 weeks

期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.