Bilateral Proliferative Retinopathy as the Initial Presentation of Chronic Myeloid Leukemia
In January 2011 a 48-year-old Caucasian male presented to the Eye Casualty Department, Hospital de Santo António-Centro Hospitalar do Porto, Porto, with a 1 1 day history of acute visual loss and floaters in his left eye (LE). The patient also complained of a 1 week history of blurred vision in the right eye (RE). He had been diagnosed with hypertension and dyslipidemia in 2009 and he was medicated with candesartan/hydrochlorothiazide 16mg/12.5mg once per day (qd) and simvastatin 20mg qd. His past ocular history was unremarkable. Both his parents had hypertension and dyslipidemia, without major ocular complications; besides this the remaining family history was unremarkable. In the last appointment (March 2010) his best corrected visual acuity (BCVA) was 20/20 with a myopia correction of 1D in both eyes (BE). When asked specifically about other symptoms, he stated he did note some fatigue over the last 3 months but it was not severe enough to seek medical attention as it disappeared with rest. He denied any history of radiation treatment, injury, weight loss, fever, rash, bone pain, abdominal discomfort, left upper quadrant pain or night sweats. On presentation, his BCVA was 20/50 in the RE and 20/200 in the LE with no improvement with pinhole. On slit-lamp examination, the anterior segment had no abnormalities with an intraocular pressure of 14mmHg (Goldmann Applanation Tonometry) in BE. Gonioscopy was unremarkable. No relative afferent pupillary defect was observed; ocular movements were preserved in all fields of gaze. Dilated fundus examination showed the presence of multiple vascular abnormalities in the posterior pole and in all four quadrants of the peripheral retina in BE, including, dilated and tortuous veins, widely scattered dot-blot and flame-shaped retinal hemorrhages, microaneurysms, multiple sea fan peripheral retinal neovascularisations with arteriovenous anastomosis, and vitreous hemorrhage more evident in the LE []. Fluorescein angiography showed some degree of blockage due to the vitreous hemorrhage and the retinal hemorrhages in BE. Fluorescein angiography also showed widely scattered microaneurysms, marked areas of peripheral retinal non-perfusion due to capillary dropout, arteriovenous anastomosis, and peripheral retinal neovascularisations with a sea fan configuration but without evidence of vasculitis [Figures and ]. A diagnosis of bilateral proliferative retinopathy was made and an initial systemic evaluation was performed. The blood pressure was 124/78 mmHg. Several laboratory test results were within normal limits, including : 0 the fasting glucose and hemoglobin A1c; lipid profile; reactive protein C activity; erythrocyte sedimentation rate; homocysteine level; serum protein S, protein C, and antithrombin III. Coagulation parameters were also normal. Factor II mutation, factor V Leiden mutation, anti-cardiolipin antibodies, and lupus anticoagulant antibodies were negative. Hemoglobin electrophoresis and serum protein electrophoresis showed no abnormalities. Complete blood count and peripheral blood smear evaluation revealed hyperleukocytosis (248×103 cells/mm3; reference value, 4.5-11.0×103 cells/mm3), thrombocytosis (684×103/mm3; reference value, 150-450×103/mm3), normochromic normocytic anemia (10.8g/dL; reference value, 13.0-18.0g/dl), hyperuricemia and elevated serum levels of lactate dehydrogenase; the white blood cell differential count indicated an increased number of circulating mature and immature granulocytes, with the presence of blasts (1%) and a basophilia of 5%. Renal and hepatic functions were normal.\nBased on the ocular findings and hematological abnormalities, the patient was referred to a hematologist for further management. The physical examination revealed a palpable splenomegaly 10cm below the left costal margin and mild signs of anemia. Bone marrow aspiration and biopsy were performed. The bone marrow was hypercellular with an elevated myeloid-to-erythroid ratio and increased number of megakaryocytes but without fibrosis; the blast percentage was 4%. The morphologic findings combined with the cytogenetic analysis showing the reciprocal chromosomal translocation t(9;22) were diagnostic of CML. The patient was started on hydroxyurea (2g twice a day), allopurinol (300mg qd) and imatinib mesylate (400mg qd) which brought about a reduction in his white cell and platelets counts over a period of 5 weeks. Subsequently, hydroxyurea and allopurinol were discontinued but imatinib 400mg qd was maintained. The patient achieved complete cytogenetic remission 6 months after initiation of therapy, and after 9 months of therapy he had undetectable levels of BCR-ABL.\nBilateral scatter panretinal photocoagulation (PRP) of the peripheral avascular retina was performed in several sessions. A vitrectomy with peripheral proliferative membrane peeling and endolaser was also performed in the LE as the persistent vitreous hemorrhage did not allow the laser photocoagulation to be performed. The vitreous hemorrhage in the RE gradually cleared over a period of 3 months. Following treatment the proliferative retinopathy completely regressed in BE. The patient has been stable for the last 10 months and his BCVA is 20/25 in BE at the most recent visit.\nThe patient is being monitored closely by his oncologist and by his ophthalmologist. The patient will continue imatinib treatment for the foreseeable future.