Visual Disturbance as the first Symptom of Chronic Myeloid Leukemia.

Chronic myeloid leukemia (CML) is a well-studied entity and advances made in diagnosis and treatment have improved the disease outcome. Patients with ophthalmic manifestation of CML have been reported to have lower 5-year survival rates. Hence, recognizing the early fundus changes may improve outcome by allowing earlier diagnosis and treatment. We 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.

INTRODUCTION

Patients with ophthalmic manifestation of chronic myeloid leukemia (CML) have been reported to have lower 5-year survival than those without.1 However, ocular manifestations as the only presenting sign of CML are rare. We present a case of a previously healthy male who presented with only visual symptoms and was subsequently diagnosed with CML. Prompt treatment was instituted, resulting in good recovery. This case report highlights the importance of recognizing early fundus changes, which should allow earlier diagnosis and treatment.

Typically, the ophthalmic manifestations of CML are florid, with vascular changes such as retinal vein tortuosity or obstruction, flame-shaped hemorrhages, dot-and-blot hemorrhages, Roth spots, and even optic nerve edema. A case of macular lesion and optic nerve involvement has previously been reported as being an early ocular presentation of CML. Our case presented with preretinal and white-centered hemorrhages only.

CASE REPORT

A 30-year-old Myanmarese male with no medical history presented with a history of seeing a ‘black dot’ in his left visual field for the past 1 week. Visual acuity was 20/100 and 20/20 in his left and right eyes, respectively. The anterior segments were normal. Fundus examination revealed preretinal hemorrhage and white-centered hemorrhage in his left eye [Figure 1a].

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

There was no history suggestive of cardiac or autoimmune disease or family history of blood dyscrasias. Physical examination did not show splenomegaly or cardiac arrhythmias or murmurs.

A full blood count revealed a raised white blood cell count of 173 × 109/l (normal range: 3.26–9.28 × 109/l). Hematocrit was 25.2% (normal range: 35.1%–50.0%). Thrombocyte count was normal. Peripheral blood film [Figure 1b] and bone marrow aspirate [Figure 1c] showed marked myeloid hyperplasia in 89.6% of the cells, consisting of mature neutrophils and myelocytes without any blasts. Erythropoiesis was markedly reduced. Fluorescent in situ hybridization (FISH) showed karyotype 46, XY, t(9;22) [Figure 1d]. These findings were consistent with the diagnosis of CML.

He was started on cytoreductive therapy consisting of 2 g hydroxyurea twice a day along with 300 mg allopurinol every morning. The fundus changes resolved and visual acuity improved to 20/30 in his left eye. Following this, he opted to switch to a long-term trial drug bosutinib started by his hematologist. There was no ocular or systemic recurrence after 12 months of follow-up [Figure 1e].

DISCUSSION

Studies have shown that only 5%–10% of CML patients present with eye symptoms at initial diagnosis.23 A case with a macular lesion and optic nerve involvement has previously been reported.4 Optic nerve involvement typically leads to relatively rapid and potentially irreversible vision loss.5 This case was a rare exception as the usual ocular manifestation in CML is retinal involvement [Table 1]. The macular lesion in our patient could be a precursor of further fundus changes, such as optic nerve involvement.

Table 1

Signs of ophthalmic leukemic manifestation in the fundus

Leukemic retinopathy can be mistaken for other hematological disorders that have similar presenting signs in the fundus [Table 2]. Even though the other differentials of Roth spot, including retinal vein occlusion, diabetes, anemia, and infective causes such as syphilis and HIV [Table 3] were also considered, hematologist referral was a priority in view of his abnormal blood results.

Table 2

Comparison of fundus signs in different hematological disorders

Table 3

Differential diagnosis for Roth spots

With prompt investigation and diagnosis our patient was able to receive treatment early into his disease before other signs manifested. Recovery was extremely good, with no recurrence thus far, i.e., after 12 months of follow-up. It was reported that 5-year survival of patients with ophthalmic manifestation of CML was 21.4% compared to 45.7% of those without.1 Prompt diagnosis and treatment of such patients is of paramount importance.

In summary, it is important to recognize early fundus changes in patients who do not present with the usual signs and symptoms of CML. A suspicious ocular finding should be followed up with appropriate systemic evaluation and workup, including a full blood count.