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小儿非鼻侧非典型视网膜脉络膜缺损:病例系列及综述

Non-nasal, atypical retinochoroidal coloboma in pediatric patients: Case series and review.

作者信息

Shah Serena, Santos da Cruz Natasha Ferreira, Staropoli Patrick, Lopez-Font Francisco, Peter Chang Ta Chen, Berrocal Audina

机构信息

Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine. 900 NW 17 Street, Miami, FL 33136, USA.

出版信息

Am J Ophthalmol Case Rep. 2024 Feb 9;34:102015. doi: 10.1016/j.ajoc.2024.102015. eCollection 2024 Jun.

Abstract

PURPOSE

To report 2 cases of atypically located, non-nasal colobomas in the pediatric population.

OBSERVATIONS

A 3-week-old female neonate with no known past ocular or medical history was diagnosed with temporal iris and chorioretinal coloboma with tractional membranes upon examination under anesthesia and imaging. A 9-year-old female with a history of bilateral sensorineural hearing loss and left mild hydronephrosis presented with a temporal chorioretinal coloboma associated with retinal detachment.

CONCLUSIONS AND IMPORTANCE

Very few cases of atypically located, non-nasal pediatric colobomas have been reported, and they lack a clear cause or mechanism of formation. Continued documentation of their occurrence and research into their formation at a molecular and embryological level are warranted to better understand their pathogenesis.

摘要

目的

报告2例儿科患者非典型位置的非鼻侧脉络膜缺损病例。

观察结果

一名3周大的女新生儿,既往无已知眼部或病史,在麻醉下检查及影像学检查时被诊断为颞侧虹膜和脉络膜视网膜缺损伴牵引膜。一名9岁女性,有双侧感音神经性听力损失和左肾轻度积水病史,表现为颞侧脉络膜视网膜缺损伴视网膜脱离。

结论与意义

非典型位置的非鼻侧儿科脉络膜缺损病例报道极少,且缺乏明确的病因或形成机制。有必要持续记录其发生情况,并在分子和胚胎学水平上对其形成进行研究,以更好地了解其发病机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7772/10876588/c9fd40355245/gr1.jpg

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