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Case Report Visual Disturbance As the First Symptom of Chronic Myeloid Leukemia

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Case Report Visual Disturbance As the First Symptom of Chronic Myeloid Leukemia [Downloaded free from http://www.meajo.org on Tuesday, March 27, 2012, IP: 41.234.93.234] || Click here to download free Android application for this journal Case Report Visual Disturbance as the first Symptom of Chronic Myeloid Leukemia Philemon K. Huang, Srinivasan Sanjay ABSTRACT Access this article online Website: Chronic myeloid leukemia (CML) is a well-studied entity and advances made in diagnosis and www.meajo.org treatment have improved the disease outcome. Patients with ophthalmic manifestation of DOI: CML have been reported to have lower 5-year survival rates. Hence, recognizing the early 10.4103/0974-9233.90143 fundus changes may improve outcome by allowing earlier diagnosis and treatment. We Quick Response Code: report a case of a previously healthy 30-year-old Myanmarese male, who presented with a minor visual disturbance, complaining of seeing a ‘black dot’ in his left visual field for the past 1 week. Fundoscopic examination revealed bilateral retinal blot hemorrhages, white- centered hemorrhage, and preretinal hemorrhage over the left fovea. The full blood count and peripheral blood film were abnormal, and bone marrow biopsy confirmed the diagnosis of CML. Cytoreduction therapy was promptly commenced and his symptoms resolved, with improvement in visual acuity. No complications were recorded at 1-year follow-up. Key words: Chronic Myeloid Leukemia, Retinal Hemorrhage, Roth Spots, Visual Disturbance INTRODUCTION CASE REPORT atients with ophthalmic manifestation of chronic myeloid A 30-year-old Myanmarese male with no medical history Pleukemia (CML) have been reported to have lower 5-year presented with a history of seeing a ‘black dot’ in his left visual survival than those without.1 However, ocular manifestations field for the past 1 week. Visual acuity was 20/100 and 20/20 in as the only presenting sign of CML are rare. We present a case his left and right eyes, respectively. The anterior segments were of a previously healthy male who presented with only visual normal. Fundus examination revealed preretinal hemorrhage symptoms and was subsequently diagnosed with CML. Prompt and white-centered hemorrhage in his left eye [Figure 1a]. treatment was instituted, resulting in good recovery. This case report highlights the importance of recognizing early fundus There was no history suggestive of cardiac or autoimmune disease changes, which should allow earlier diagnosis and treatment. or family history of blood dyscrasias. Physical examination did not show splenomegaly or cardiac arrhythmias or murmurs. Typically, the ophthalmic manifestations of CML are florid, with vascular changes such as retinal vein tortuosity or obstruction, A full blood count revealed a raised white blood cell count of flame-shaped hemorrhages, dot-and-blot hemorrhages, Roth 173 × 109/l (normal range: 3.26–9.28 × 109/l). Hematocrit spots, and even optic nerve edema. A case of macular lesion and was 25.2% (normal range: 35.1%–50.0%). Thrombocyte optic nerve involvement has previously been reported as being count was normal. Peripheral blood film [Figure 1b] and bone an early ocular presentation of CML. Our case presented with marrow aspirate [Figure 1c] showed marked myeloid hyperplasia preretinal and white-centered hemorrhages only. in 89.6% of the cells, consisting of mature neutrophils and Department of Ophthalmology and Visual Sciences, Khoo Teck Puat Hospital/ Alexandra Health, 90 Yishun Central, Singapore 768828 Corresponding Author: Dr. Srinivasan Sanjay, Tower C, level 4, Clinic C42/43. Khoo Teck Puat Hospital/Alexandra Health, 90 Yishun Central, Singapore 768828. E-mail: [email protected] 336 Middle East African Journal of Ophthalmology, Volume 18, Number 4, October - December 2011 [Downloaded free from http://www.meajo.org on Tuesday, March 27, 2012, IP: 41.234.93.234] || Click here to download free Android application for this journal Huang and Sanjay: Early Sign of Chronic Myeloid Leukaemia a b c d e Figure 1: (a) Picture of the left eye fundus shows the preretinal hemorrhage over the macular area, with a white-centered hemorrhage (arrow) seen infero-nasally.(b) Peripheral blood smear shows basophil, three segmented neutrophil (n), and two band forms (bf). (c) Histological sections of bone marrow aspirate show hypercellular segment and cell trail (arrow). (d) Karyotyping shows translocation of chromosome 9-22 (arrows). (e) Resolved preretinal hemorrhages and white-centered hemorrhage in the left fundus myelocytes without any blasts. Erythropoiesis was markedly Table 1: Signs of ophthalmic leukemic manifestation in the reduced. Fluorescent in situ hybridization (FISH) showed fundus karyotype 46, XY, t(9;22) [Figure 1d]. These findings were • Direct infiltration – Roth spots consistent with the diagnosis of CML. – Optic nerve edema/pallor – Perivascular sheathing He was started on cytoreductive therapy consisting of 2 g • Leukemic retinopathy hydroxyurea twice a day along with 300 mg allopurinol every – Retinal hemorrhages (dot-shaped, flame-shaped, intraretinal, subretinal, subhyaloid) morning. The fundus changes resolved and visual acuity improved – Retinal venous tortuosity to 20/30 in his left eye. Following this, he opted to switch to – Retinal vein obstruction a long-term trial drug bosutinib started by his hematologist. – Cotton-wool spots – Peripheral microaneurysm and neovascularization There was no ocular or systemic recurrence after 12 months – Sea-fan neovascularization of follow-up [Figure 1e]. – Serous retinal detachment DISCUSSION With prompt investigation and diagnosis our patient was able Studies have shown that only 5%–10% of CML patients to receive treatment early into his disease before other signs present with eye symptoms at initial diagnosis.2,3 A case with a manifested. Recovery was extremely good, with no recurrence thus far, i.e., after 12 months of follow-up. It was reported macular lesion and optic nerve involvement has previously been that 5-year survival of patients with ophthalmic manifestation reported.4 Optic nerve involvement typically leads to relatively of CML was 21.4% compared to 45.7% of those without.1 rapid and potentially irreversible vision loss.5 This case was a rare Prompt diagnosis and treatment of such patients is of paramount exception as the usual ocular manifestation in CML is retinal importance. involvement [Table 1]. The macular lesion in our patient could be a precursor of further fundus changes, such as optic nerve In summary, it is important to recognize early fundus changes in involvement. patients who do not present with the usual signs and symptoms of CML. A suspicious ocular finding should be followed up Leukemic retinopathy can be mistaken for other hematological with appropriate systemic evaluation and workup, including a disorders that have similar presenting signs in the fundus full blood count. [Table 2]. Even though the other differentials of Roth spot, including retinal vein occlusion, diabetes, anemia, and infective ACKNOWLEDGMENT causes such as syphilis and HIV [Table 3] were also considered, hematologist referral was a priority in view of his abnormal The authors are grateful to Dr Yap Eng Soo, Department of Hematology, blood results. National University of Singapore for the bone marrow study and Dr Middle East African Journal of Ophthalmology, Volume 18, Number 4, October - December 2011 337 [Downloaded free from http://www.meajo.org on Tuesday, March 27, 2012, IP: 41.234.93.234] || Click here to download free Android application for this journal Huang and Sanjay: Early Sign of Chronic Myeloid Leukaemia Table 2: Comparison of fundus signs in different hematological disorders Leukemic retinopathy Anemic retinopathy Sickle-cell retinopathy Lymphoma-associated retinopathy – Hemorrhages – Hemorrhages – Neovascularization – Cotton wool spots – Roth spots – Roth spots – Sickling maculopathy – Retinal phlebitis – Cotton-wool spots – Cotton wool spots – Central retinal arteryocclusion – nonresolving uveitis – Exudates – Exudates – Branch retinal arteryocclusion – Exudative retinal detachment – Tortuous retinal veins – Tortuous retinal veins – Epiretinal membrane – Choroidal whitish infiltrates – Retinal vein obstruction – Retinal edema – Ischemic optic neuropathy – Neovascularization – Optociliary shunts – Perivascular sheathing – Optic nerve edema – Serous retinal detachment 1992;76:651-5. Table 3: Differential diagnosis for Roth spots 2. Guyer DR, Schachat AP, Vitale S, Markowitz JA, Braine H, • Subacute bacterial endocarditis Burke PJ, et al. Leukaemic retinopathy: Relationship between • Leukemia fundus lesions and haematologic parameters at diagnosis. • Hypertension Ophthalmology 1989;96:860-4. • Diabetes • Oral contraceptive use 3. Reddy SC, Jackson N, Menon BS. Ocular involvement • HIV retinopathy in leukaemia: A study of 288 cases. Ophthalmologica • Ocular toxoplasmosis 2003;217:441-5. • Systemic lupus 4. Mandic BD, Potocnjak V, Bencic G, Mandic Z, Pentz A, Hajnzic • Multiple myeloma TF. Visual loss as initial presentation of chronic myelogenous leukaemia. Coll Antropol 2005;1:141-3. 5. Abdul-Rahim AS, Brown SM, Shami MJ. Bilateral retinal Leena Gole, Department of Laboratory Medicine, National University haemorrhages in an 18-year-old woman. Surv Ophthalmol of Singapore for the karyotyping. 2002;47:590-3. REFERENCES Cite this article as: Huang PK, Sanjay S. Visual disturbance as the first symptom of chronic myeloid leukemia. Middle East Afr J Ophthalmol 1. Ohkoshi K, Tsiaras WG. Prognostic importance of ophthalmic 2011;18:336-8. manifestation in childhood
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