Lee Siyun, Kim Joonhyung
Department of Ophthalmology, CHA Bundang Medical Center, CHA University School of Medicine, #59 Yatap-ro, Bundang-gu, Seongnam 13496, Republic of Korea.
Int J Mol Sci. 2025 Sep 11;26(18):8841. doi: 10.3390/ijms26188841.
Chronic myeloid leukemia (CML) is a clonal myeloproliferative neoplasm arising in hematopoietic stem cells. It may initially present with ocular symptoms, as illustrated by the case of a previously healthy 25-year-old woman who presented with a five-day history of floaters in her left eye. Fundus examination revealed bilateral retinal hemorrhages, Roth spots, increased vascular tortuosity, a left preretinal hemorrhage, and a left vitreous hemorrhage. Retinopathy secondary to a hematologic disorder was considered; the patient was promptly referred to hematology-oncology. Laboratory evaluation demonstrated leukocytosis with anemia, peripheral smear showed 1% myeloblasts, 40% myelocytes, and basophilia. Cytogenetic analysis confirmed t(9;22)(q34;q11.2), and quantitative polymerase chain reaction (PCR) detected a (b3a2) transcript. A diagnosis of bilateral leukemic retinopathy was established, and the patient promptly started appropriate therapy for CML. This case underscores the importance of recognizing ocular findings-such as Roth spots, intraocular hemorrhages, and increased vascular tortuosity-as potential indicators of systemic malignancy and ensuring early referral and management. Early ophthalmic recognition of such findings can be vision- and life-saving.
慢性髓性白血病（CML）是一种起源于造血干细胞的克隆性骨髓增殖性肿瘤。它最初可能表现为眼部症状，如下例所示：一名既往健康的25岁女性，左眼出现飞蚊症5天。眼底检查发现双侧视网膜出血、 Roth斑、血管迂曲增加、左眼视网膜前出血和左眼玻璃体积血。考虑为血液系统疾病继发的视网膜病变；患者被迅速转诊至血液肿瘤学专科。实验室检查显示白细胞增多伴贫血，外周血涂片显示1%的原始粒细胞、40%的中幼粒细胞和嗜碱性粒细胞增多。细胞遗传学分析证实存在t(9;22)(q34;q11.2)，定量聚合酶链反应（PCR）检测到一种（b3a2）转录本。确诊为双侧白血病性视网膜病变，患者随即开始接受针对CML的适当治疗。该病例强调了认识眼部表现（如Roth斑、眼内出血和血管迂曲增加）作为全身恶性肿瘤潜在指标的重要性，并确保早期转诊和治疗。早期眼科识别这些表现可挽救视力和生命。
