Light Jacob, Schratz Kristen E, Nanegrungsunk Onnisa, Rudnick Noam, Armanios Mary, Bressler Neil M
Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
J Vitreoretin Dis. 2025 Feb 3:24741264251316324. doi: 10.1177/24741264251316324.
To describe the association between short telomere syndrome and exudative retinopathies in adults. This case series compared the presentation, course of treatment, and visual outcomes of 2 patients with adult-onset retinopathy associated with short telomere syndrome. In Case 1, a 53-year-old man initially presented with bilateral retinal telangiectasias and preretinal hemorrhage in the left eye, which was followed by multiple vitreous hemorrhages. In the subsequent 15 years, the patient was diagnosed with pulmonary fibrosis, liver cirrhosis, and a gene mutation, consistent with short telomere syndrome. In Case 2, a previously asymptomatic 26-year-old man with paternally inherited short telomere syndrome ( gene mutation) presented with floaters, bilateral peripheral retinal capillary nonperfusion, and an aneurysmal lesion with surrounding exudation. Short telomere syndromes, with systemic features that can be life-threatening, can manifest initially in adulthood with retinal telangiectasia, aneurysmal lesions, exudation, or peripheral retinal capillary nonperfusion, preceding systemic manifestations. Because the systemic manifestations of retinal telangiectasia and peripheral retinal capillary nonperfusion are progressive and can be life-threatening, recognizing these findings in adults with retinal telangiectasia is crucial.
描述成人短端粒综合征与渗出性视网膜病变之间的关联。本病例系列比较了2例与短端粒综合征相关的成人发病视网膜病变患者的临床表现、治疗过程和视觉预后。病例1中，一名53岁男性最初表现为双侧视网膜毛细血管扩张和左眼视网膜前出血，随后出现多次玻璃体积血。在接下来的15年里，该患者被诊断为肺纤维化、肝硬化和一种基因突变，符合短端粒综合征。病例2中，一名先前无症状的26岁男性，患有父系遗传的短端粒综合征（基因突变），表现为飞蚊症、双侧周边视网膜毛细血管无灌注以及一个伴有周围渗出的动脉瘤样病变。短端粒综合征具有可能危及生命的全身特征，最初可在成年期表现为视网膜毛细血管扩张、动脉瘤样病变、渗出或周边视网膜毛细血管无灌注，先于全身表现出现。由于视网膜毛细血管扩张和周边视网膜毛细血管无灌注的全身表现是进行性的且可能危及生命，因此在患有视网膜毛细血管扩张的成人中识别这些发现至关重要。
