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眼部先天性畸形:图文综述及临床与放射学相关性

Congenital Malformations of the Eye: A Pictorial Review and Clinico-Radiological Correlations.

作者信息

Guarnera Alessia, Valente Paola, Pasquini Luca, Moltoni Giulia, Randisi Francesco, Carducci Chiara, Carboni Alessia, Lucignani Giulia, Napolitano Antonio, Romanzo Antonino, Longo Daniela, Gandolfo Carlo, Rossi-Espagnet Maria Camilla

机构信息

Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, Rome 00165, Italy.

Neuroradiology Unit, NESMOS Department, Sant'Andrea Hospital, La Sapienza University, Via di Grottarossa 1035-1039, Rome 00189, Italy.

出版信息

J Ophthalmol. 2024 Jan 30;2024:5993083. doi: 10.1155/2024/5993083. eCollection 2024.

Abstract

Congenital malformations of the eye represent a wide and heterogeneous spectrum of abnormalities that may be part of a complex syndrome or be isolated. Ocular malformation severity depends on the timing of the causative event during eye formation, ranging from the complete absence of the eye if injury occurs during the first weeks of gestation, to subtle abnormalities if the cause occurs later on. Knowledge of ocular malformations is crucial to performing a tailored imaging protocol and correctly reporting imaging findings. Together with the ophthalmologic evaluation, imaging may help frame ocular malformations and identify underlying genetic conditions. The purpose of this pictorial review is to describe the imaging features of the main ocular malformations and the related ophthalmologic findings in order to provide a clinico-radiological overview of these abnormalities to the clinical radiologist. Sight is a crucial sense for children to explore the world and relate with their parents from birth. Vision impairment or even blindness secondary to ocular malformations deeply affects children's growth and quality of life.

摘要

眼部先天性畸形表现为广泛且异质性的一系列异常,这些异常可能是复杂综合征的一部分,也可能是孤立存在的。眼部畸形的严重程度取决于眼部形成过程中致病事件发生的时间,从妊娠头几周受伤导致眼睛完全缺失,到后期发病导致的细微异常不等。了解眼部畸形对于制定针对性的成像方案以及正确报告成像结果至关重要。与眼科评估一起,成像有助于明确眼部畸形并识别潜在的遗传疾病。本图文综述的目的是描述主要眼部畸形的成像特征及相关眼科检查结果,以便为临床放射科医生提供这些异常的临床放射学概述。视力对于儿童从出生起探索世界并与父母建立联系至关重要。眼部畸形继发的视力损害甚至失明会严重影响儿童的成长和生活质量。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fa2c/10846927/68707297c510/JOPH2024-5993083.001.jpg

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