Visual Clues in Ocular Involvement of Acute Promyelocytic Leukemia

A 65-year-old woman presented with blurry vision accompanied by severe anemia (hemoglobin 6.2 g/dL) and thrombocytopenia (13 10/L).The leukocyte count at diagnosis was 4.21 10/L, without evidence of hyperleukocytosis.Laboratory evaluation revealed low fibrinogen (1.4 g/L), markedly elevated D-dimer levels (18,020 ng/mL), and prolonged prothrombin time (PT).According to the International Society on Thrombosis and Haemostasis criteria, the calculated disseminated intravascular coagulation (DIC) score was 6 points (platelet count 1.0 g/L = 0 points), consistent with overt DIC at diagnosis.The patient required transfusion support with 2 units of packed red blood cells, 2 platelet pools, and 1g of fibrinogen concentrate.Peripheral blood smear showed 40% promyelocytes and blasts.Bone marrow aspirate revealed 86% pathological cells with an atypical promyelocytic immunophenotype.Flow cytometry demonstrated positivity for CD45 and myeloperoxidase (90%), strong CD33, heterogeneous CD13, CD38 positivity, and weak expression of CD117 (82%) and CD123 (46%), with absence of CD34, HLA-DR, TdT, and CD15.Molecular analysis confirmed PML-RARA transcripts (BCR1, BCR2, BCR3), establishing the diagnosis of acute promyelocytic leukemia.Induction therapy with all-trans retinoic acid and mitoxantrone was initiated.Ophthalmologic evaluation revealed bilateral peripapillary flame-shaped hemorrhages, dot-and-blot peripheral hemorrhages, and Roth spots (Figure 1), consistent with leukemic retinopathy and optic neuropathy (LRON).Although ophthalmic complications are often underrecognized, studies report ocular involvement in 32-35.5% of acute leukemia patients, the retina being the most frequently affected site. 1 Ocular manifestations in leukemia can arise from direct leukemic infiltration, secondary central nervous system involvement, or retinal vascular abnormalities related to anemia, thrombocytopenia, leukemic infiltration, hyperviscosity, or DIC. 1,2,3Roth spots, while historically associated with subacute bacterial endocarditis, may also result from platelet-fibrin aggregation and leukemic cell accumulation. 4,5,6DIC can affect the eye at various stages, typically causing retinal detachments, vacuolar disruption of the retinal pigment epithelium, choroidal hemorrhages, and thrombotic occlusion of the choriocapillaris and adjacent submacular and peripapillary vessels. 7,8Although the patient was initially at high risk for DIC, her retinal findings did not match typical DIC-related ocular changes, suggesting that thrombocytopenia, anemia, or direct leukemic involvement were the main contributors.On the other hand, expression of CD7 and CD38 has been associated with increased risk of LRON in acute myeloid leukemia.Retinopathy generally resolves with systemic leukemia treatment; however, patients with ocular involvement may have higher mortality in some studies. 1 The patient responded favorably to treatment, with significant improvement in her overall condition.Two months later, fundus examination showed complete resolution of the retinal hemorrhages.These observations highlight the need for a thorough ophthalmic assessment, including a dilated fundus examination, at the time of leukemia diagnosis, since ocular involvement is frequent and may be clinically silent. 9,