Choroidal neovascularization in a teenager with Kearns Sayre syndrome.

IF 1 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2025-10-14 DOI:10.1080/13816810.2025.2572711

Miriam Ehrenberg, Assaf Dotan, Orly Gal-Or, Gad Dotan, Rita Ehrlich, Amir Sternfeld

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引用次数: 0

Abstract

Background: Kearns Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder. KSS primarily targets energy supply in cells through impaired oxidative metabolism and reduced ATP (Adenosine triphosphate) production. KSS is clinically characterized by a classic triad of chronic progressive external ophthalmoplegia, retinitis pigmentosa and cardiac conduction defect. Additional features may include neurological abnormalities, endocrinopathies, renal disease, growth failure, myopathy and more.

Materials and methods: We present a case of a young male with KSS, retinal dystrophy and multiple systemic abnormalities.

Results: Despite treatment with three intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections, the CNV demonstrated limited response and progressive enlargement, leading to poor final visual outcome.

Conclusion: To our knowledge, CNV has not been previously documented in Kearns -Sayre syndrome. This report underscores the need for ongoing surveillance in patients with rare retinal dystrophies, given the potential for unforeseen complications.

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卡恩斯·塞尔综合征青少年脉络膜新生血管的形成。

背景：卡恩斯·塞尔综合征（KSS）是一种罕见的多系统线粒体疾病。KSS主要通过损伤氧化代谢和减少ATP（三磷酸腺苷）的产生来靶向细胞的能量供应。KSS的临床特征是慢性进行性外眼麻痹、视网膜色素变性和心脏传导缺陷的典型三联征。其他特征可能包括神经异常、内分泌病变、肾脏疾病、生长衰竭、肌病等。材料和方法：我们报告一位年轻男性患有KSS，视网膜营养不良和多系统异常。结果：尽管进行了三次玻璃体内抗血管内皮生长因子（anti-VEGF）注射治疗，CNV表现出有限的反应和进行性扩大，导致最终视力结果较差。结论：据我们所知，CNV在卡恩斯-塞尔综合征中尚未被证实。本报告强调了对罕见视网膜营养不良患者进行持续监测的必要性，因为可能出现不可预见的并发症。

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

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.