Congenital simple hamartoma of the retinal pigment epithelium: 4 cases with multimodal imaging.

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY Ophthalmic Genetics Pub Date : 2024-02-01 Epub Date: 2023-05-03 DOI:10.1080/13816810.2023.2206889
Masood Naseripour, Sara Hemmati, Seyyed Saeed Aghili, Arzhang Gordiz, Shayesteh Enayatollahi, Masomeh Daem, Fatemeh Abdi
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Abstract

Background: Congenital simple hamartoma of the retinal pigment epithelium is often identified as an incidental finding. One important issue is the differentiation of these benign lesions from other lesions which could be potentially sight-threatening.

Methods: This study describes 4 cases of congenital simple hamartoma of the retinal pigment epithelium that were referred to a university-based hospital. Multimodal imaging including fundus photo, multicolor fundus photo, fundus autofluorescence, optical coherence tomography (OCT), OCT angiography, fluorescein angiography and multifocal electroretinogram is provided.

Results: The first case is a young man with an incidental finding of this lesion. The second and third cases are diabetic patients with congenital simple hamartoma of the retinal pigment epithelium and diabetic macular edema and the fourth one is a case of congenital simple hamartoma of the retinal pigment epithelium with a full-thickness macular hole.

Conclusions: Differentiation of congenital simple hamartoma of the retinal pigment epithelium from other potentially sight-threatening lesions is important. Multimodal imaging can be helpful regarding this issue. Besides typical findings described in the literature, unique features in our cases include concurrent diabetic macular edema and association with a full-thickness macular hole.

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视网膜色素上皮先天性单纯火腿肠瘤:4例多模态成像
背景:先天性视网膜色素上皮细胞单纯火腿肠瘤通常是偶然发现的。一个重要的问题是如何将这些良性病变与其他可能危及视力的病变区分开来:本研究描述了 4 例转诊至大学附属医院的先天性视网膜色素上皮细胞单纯火腿肠瘤病例。研究提供了多模式成像,包括眼底照片、多色眼底照片、眼底自动荧光、光学相干断层扫描(OCT)、OCT 血管造影、荧光素血管造影和多焦视网膜电图:第一个病例是一名偶然发现这种病变的年轻男子。第二和第三例是患有先天性视网膜色素上皮单纯火腿状瘤和糖尿病黄斑水肿的糖尿病患者,第四例是先天性视网膜色素上皮单纯火腿状瘤伴全厚黄斑孔的病例:先天性视网膜色素上皮单纯火腿状瘤与其他可能危及视力的病变的鉴别非常重要。多模态成像对这一问题很有帮助。除了文献中描述的典型结果外,我们病例的独特之处还包括并发糖尿病性黄斑水肿和伴有全厚黄斑孔。
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来源期刊
Ophthalmic Genetics
Ophthalmic Genetics 医学-眼科学
CiteScore
2.40
自引率
8.30%
发文量
126
审稿时长
>12 weeks
期刊介绍: Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
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