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良性小叶内核层增生的表型谱:多中心分析及文献综述

Phenotypic Spectrum of Benign Lobular Inner Nuclear Layer Proliferations: A Multicenter Analysis and Review of the Literature.

作者信息

Javaheri Michael, Sanfilippo Christian J, Kasi Sundeep K, Chen Rachel, Ruiz-Moreno Jose M, Shields Carol L, Saperstein David A, Yuan Amy, Lujan Brandon J, Heimann Heinrich, Dodeja Rutika, Bergstrom Chris, Yanık Özge, Berry Jesse L, Nagiel Aaron

机构信息

Department of Ophthalmology, Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, California; Retina Specialists of Beverly Hills, Beverly Hills, California.

The Retina Partners, Los Angeles, California.

出版信息

Ophthalmol Retina. 2025 Apr 8. doi: 10.1016/j.oret.2025.04.004.

DOI:10.1016/j.oret.2025.04.004
PMID:40209933
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12353968/
Abstract

OBJECTIVE

To report the clinical and imaging features of 8 new and 9 published cases with benign lobular inner nuclear layer proliferations (BLIPs).

DESIGN

Retrospective case series and literature review.

PARTICIPANTS

Eight previously unreported patients from 7 institutions internationally and 10 reported cases in the literature.

METHODS

Retrospective analysis of clinical and imaging features of BLIPs including systematic review of published cases using relevant terms.

MAIN OUTCOMES AND MEASURES

Description of multimodal imaging and systemic findings in 17 patients with BLIPs.

RESULTS

Eight new cases and 10 previously published cases with BLIPs were reviewed for clinical features, systemic associations, and imaging findings. The tumors were mostly unilateral (16 of 18 cases; 88%), associated with ipsilateral grouped congenital hypertrophy of the retinal pigment epithelium lesions (16 of 20 eyes; 80%), and located posterior to the equator. In all eyes, the tumors were multifocal, and many had curvilinear extensions that extended beyond the central tumor lobules. OCT demonstrated these lesions to be centered within the inner nuclear layer at the border of the inner plexiform layer with no invasion of adjacent layers. Visual acuity was normal (mean: 0.024 logarithm of the minimum angle of resolution; range: -0.01 to 0.3) in all cases, and most patients were asymptomatic. No plausible genetic or systemic associations could be identified.

CONCLUSIONS

This expanded series of BLIPs further refines the clinical characteristics and imaging findings associated with this newly described benign retinal tumor.

FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

摘要

目的

报告8例新发及9例已发表的良性小叶内核层增殖(BLIPs)病例的临床和影像学特征。

设计

回顾性病例系列研究及文献综述。

参与者

来自国际7家机构的8例既往未报告的患者以及文献中10例已报告病例。

方法

对BLIPs的临床和影像学特征进行回顾性分析,包括使用相关术语对已发表病例进行系统综述。

主要结局和指标

描述17例BLIPs患者的多模态影像学及全身检查结果。

结果

对8例新发及10例既往已发表的BLIPs病例的临床特征、全身相关性及影像学表现进行了回顾。肿瘤大多为单侧(18例中的16例;88%),与同侧视网膜色素上皮病变的先天性成组肥大相关(20只眼中的16只;80%),且位于赤道后方。在所有眼中,肿瘤均为多灶性,许多肿瘤有曲线状延伸超出中央肿瘤小叶。光学相干断层扫描(OCT)显示这些病变以内核层为中心,位于内网状层边界,未侵犯相邻层。所有病例的视力均正常(平均:最小分辨角对数为0.024;范围:-0.01至0.3),且大多数患者无症状。未发现合理的遗传或全身相关性。

结论

这一扩大的BLIPs系列进一步明确了与这种新描述的良性视网膜肿瘤相关的临床特征和影像学表现。

财务披露

在本文末尾的脚注和披露中可能会发现专有或商业披露信息。

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