Overlapping clinical features of persistent fetal vasculature and combined hamartoma of the retina and retinal pigment epithelium

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-10-01 DOI:10.1016/j.jaapos.2024.104012

Ece Ozdemir Zeydanli MD, FRCS(Ed) , Ahmet Yucel Ucgul MD, FRCS(Ed) , H. Tuba Atalay MD, FEBO , M. Elizabeth Hartnett MD, FASRS , Ehab El Rayes MD, FASRS , Huban Atilla MD, FEBO , Sengul Ozdek MD, FASRS

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引用次数: 0

Abstract

Purpose

To investigate cases exhibiting overlapping features of persistent fetal vasculature (PFV) and combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) and to explore potential associations between these developmental ocular anomalies.

Methods

This retrospective, descriptive case series included 9 eyes of 8 patients aged 0-7 years with shared clinical features of PFV and CHRRPE. Diagnoses were established through clinical examination and intraoperative findings.

Results

All eyes exhibited elevated pigmented retinal thickening, increased vascular tortuosity, and preretinal fibrotic/gliotic changes or epiretinal membranes. Macular involvement was observed in 56% of cases; peripapillary involvement, in 44%. Four eyes showed hyaloid stalklike fibrotic remnants extending from the lesion to the posterior lens surface, suggestive of PFV component; the other 5 harbored isolated CHRRPE. One patient presented with PFV in one eye and CHRPPE in the other.

Conclusions

This study reveals significant clinical overlap between PFV and CHRRPE, with some cases displaying features typically associated with the other condition. The presence of both diagnoses in the same patient further suggests a potential association between these entities. Further research, including molecular studies, is needed to explore this potential connection and deepen our understanding of ocular development.

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胎儿持续性血管瘤与视网膜和视网膜色素上皮合并火腿肠瘤的临床特征重叠。

目的：研究具有胎儿血管持续性畸形（PFV）和视网膜及视网膜色素上皮联合火腿肠瘤（CHRPE）重叠特征的病例，并探讨这些眼部发育异常之间的潜在关联：该回顾性、描述性病例系列包括 8 名 0-7 岁患者的 9 只眼睛，这些患者具有 PFV 和 CHRRPE 的共同临床特征。通过临床检查和术中发现确定诊断：结果：所有眼球均表现为色素性视网膜增厚、血管迂曲增加、视网膜前纤维化/胶质细胞病变或视网膜外膜。56%的病例出现黄斑受累，44%的病例出现毛细血管周围受累。有四只眼睛显示从病变处延伸到晶状体后表面的类玻璃体柄状纤维化残余物，提示存在 PFV 成分；另外五只眼睛则存在孤立的 CHRRPE。一名患者的一只眼为 PFV，另一只眼为 CHRPPE：本研究揭示了 PFV 和 CHRRPE 之间存在明显的临床重叠，一些病例显示出与另一种疾病相关的典型特征。在同一患者身上同时出现这两种诊断，进一步表明这两种疾病之间存在潜在的关联。我们需要进一步的研究，包括分子研究，来探索这种潜在的联系，加深我们对眼部发育的理解。

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

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.