Diala Fitz Gerald I, Caleon Ramoncito L, Mahdavi Fard Ali, Heilweil Gad
UCLA Medical Scientist Training Program, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.
Department of General Surgery, Vanderbilt University Medical Center, Nashville, Tennessee.
Retin Cases Brief Rep. 2024 Nov 1;18(6):745-746. doi: 10.1097/ICB.0000000000001467.
To describe a 25-year-old female patient with unilateral Roth spots as the initial presentation of essential thrombocythemia.
Case report.
A 25-year-old woman presented with visual complaints of seeing flashing lights and mild blurred vision in her left eye. Dilated fundus examination revealed intraretinal hemorrhages with a pattern compatible with Roth spots. Further workup showed thrombocythemia with positive JAK2 (V617F) mutation, confirming the diagnosis of essential thrombocythemia. The symptoms and fundus findings resolved in one month after initiation of the treatment with low-dose oral aspirin. Essential thrombocythemia, which is defined as repeated platelet count of ≥450,000 per microliter without a secondary cause, can present with highly variable symptoms from being asymptomatic to chest pain, cerebral venous sinus thrombosis, retinal vascular occlusion, and granuloma annulare. In the presented case, Roth spots hastened the need for more complete workup to determine the systemic cause of this ocular finding, ultimately leading to the diagnosis.
Finding of Roth spots may warrant a systemic workup to find out the underlying pathologic condition, which in the present case was essential thrombocythemia, a potentially life-threatening condition.
描述一名25岁女性患者，以单侧Roth斑作为原发性血小板增多症的初始表现。
病例报告。
一名25岁女性因左眼出现闪光感和轻度视力模糊的视觉症状前来就诊。散瞳眼底检查发现视网膜内出血，其形态符合Roth斑。进一步检查显示血小板增多，JAK2（V617F）突变呈阳性，确诊为原发性血小板增多症。在开始使用小剂量口服阿司匹林治疗后一个月，症状和眼底表现消失。原发性血小板增多症定义为无继发原因的情况下，血小板计数反复≥450,000/微升，其症状表现高度多样，从无症状到胸痛、脑静脉窦血栓形成、视网膜血管阻塞和环形肉芽肿不等。在本病例中，Roth斑促使需要进行更全面的检查以确定这一眼部表现的全身病因，最终导致了诊断。
发现Roth斑可能需要进行全身检查以找出潜在的病理状况，在本病例中为原发性血小板增多症，这是一种潜在的危及生命的疾病。
