Retinal cases & brief reports · 2024
UNILATERAL ROTH SPOTS AS AN INITIAL PRESENTATION IN ESSENTIAL THROMBOCYTHEMIA.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Diala Fitz Gerald I, Caleon Ramoncito L, Mahdavi Fard Ali, Heilweil Gad
Аннотация
PURPOSE: To describe a 25-year-old female patient with unilateral Roth spots as the initial presentation of essential thrombocythemia.
METHOD: Case report.
RESULTS: 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.
CONCLUSION: 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.
METHOD: Case report.
RESULTS: 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.
CONCLUSION: 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.