Retinal Reactive Astrocytic Tumor and Astrocytic hamartomas in patient with Neurofibromatosis type 1: Case Report and Literature review.

IF 1.4 4区医学 Q3 OPHTHALMOLOGY

European Journal of Ophthalmology Pub Date : 2024-11-01 Epub Date: 2024-08-14 DOI:10.1177/11206721241275143

Theodora Hadjistilianou, Alberto Carnicci, Carlo D'Alessandro, Sonia De Francesco, Mario Fruschelli

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引用次数: 0

Abstract

Introduction: Neurofibromatosis type I, also known as Von Recklinghausen disease, is a common phakomatosis affecting 1 in 2500-3000 live births; it may be associated with several common ocular findings, including Lisch nodules, plexiform neurofibromas, optic pathway gliomas, retinal astrocytic hamartomas and choroidal nodules.

Case description: This report illustrates clinical evidence of simultaneous presence of retinal reactive astrocytic tumor (RRAT) and two retinal astrocytic hamartomas (RAH) in a 15 y/o patient with NF1, referred to our attention because of an asymptomatic fundus mass in his right eye of recent onset.

Conclusion: This case, in addition to considering NF1 as one of the ocular conditions associated with secondary RRAT, underlines the importance of early referral and continuous ophthalmological follow-up in preventing possible complications that could cause significant visual impairment in patients with NF1.

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神经纤维瘤病 1 型患者视网膜反应性星形胶质细胞瘤和星形胶质细胞瘤：病例报告和文献综述。

简介神经纤维瘤病（Neurofibromatosis type I）又称冯-雷克林豪森氏病（Von Recklinghausen disease），是一种常见的噬瘤病，每2500-3000名活产婴儿中就有1人患病；该病可能伴有多种常见的眼部病变，包括Lisch结节、丛状神经纤维瘤、视神经通路胶质瘤、视网膜星形胶质细胞瘤和脉络膜结节：本报告描述了一名 15 岁的 NF1 患者同时患有视网膜反应性星形胶质细胞瘤（RRAT）和两个视网膜星形胶质细胞瘤（RAH）的临床证据：本病例除了将 NF1 视作继发性 RRAT 的相关眼部疾病之一外，还强调了早期转诊和持续眼科随访对于预防可能出现的并发症的重要性，这些并发症可能会导致 NF1 患者视力严重受损。

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

European Journal of Ophthalmology 医学-眼科学

CiteScore

3.60

自引率

0.00%

发文量

372

审稿时长

3-8 weeks

期刊介绍： The European Journal of Ophthalmology was founded in 1991 and is issued in print bi-monthly. It publishes only peer-reviewed original research reporting clinical observations and laboratory investigations with clinical relevance focusing on new diagnostic and surgical techniques, instrument and therapy updates, results of clinical trials and research findings.