Massive retinal infiltrates as the presenting sign of chronic myeloid leukemia: Clinical and imaging features of leukemic retinopathy

Abstract

Purpose: To describe the clinical and optical coherence tomography (OCT) features of two cases with bilateral diffuse retinal infiltrates as the only presenting feature of chronic myeloid leukemia (CML) on initial diagnosis and upon relapse. Methods: We reported two patients with CML, one at initial diagnosis and one in remission who presented with bilateral subacute visual impairment. Fundal examination revealed bilateral symmetrical leukostatic appearance with increased vascular tortuosity, diffuse retinal infiltrates with size up to 6 disk diameters, retinal hemorrhages, and Roth’s spots. OCT showed multiple intra-retinal hyper-reflective foci corresponding to intra-retinal hemorrhages, and outer retinal hyper-reflective foci in area corresponding to retinal infiltrate. The different retinal layers were relatively preserved and distinguishable. Results: White cell count (WCC) were elevated in both patients ranging from 544 to 810 × 109/L. Bone marrow biopsy confirmed the diagnosis of CML in the patient without prior diagnosis and relapse of CML in another patient. Cytogenetic test detected Abelson murine leukemia (ABL) – breakpoint cluster region (BCR) fusion transcript in both cases. Both patients were started on oral imatinib, subsequently WCC returned to within normal values in both cases. Vision and OCT abnormalities improved and reduction in retinal hemorrhages and infiltrates were observed in follow up. Conclusion: This report highlights the important role of ophthalmologists and detailed fundus examination in making a prompt diagnosis of leukemia in patients with visual complaints. Appropriate systemic investigation and hematologist referrals for prompt treatment of CML may improve survival rate and preserve vision.

Clinical and Imaging Features of Leukemic Retinopathy

“…Primary infiltration of neoplastic cells can occur virtually in all ocular tissues including the retina (3%), orbit (1%), choroid (0.3%), and optic nerve (0.3%) [6]. Direct infiltration of the retina occurs across all levels, more commonly in the inner retinal layers [9,10]. These aggregates of leukemic cells in the retina can cause complete or partial structural destruction [8].…”

“…• Leukemic infiltrates can occur in all ocular tissues, with retina being the most common site of involvement ○ Retinal infiltrates are large gray, white nodules of varying size that can involve all levels of retina, especially common in outer retinal layers. Subretinal infiltrates have been referred as subretinal hypopyon ○ Smaller infiltrates tend to be perivascular, while massive retinal infiltrate can cause total retinal detachment [21] ○ Massive retinal infiltrates may appear as large confluent retinal infiltrates in CML patients with extreme leukocytosis [9,10].…”

“…For example, the degree and extent of macular edema and serous retinal detachment can be demonstrated if not evident clinically [26]. The resolution of Clinical and Imaging Features of Leukemic Retinopathy DOI: http://dx.doi.org/10.5772/intechopen.107649 leukemic infiltrates can also be observed with systemic treatment [9,27]. The features of leukemic ocular manifestations are described further below: • Loss of physiological hour-glass appearance over retinal vessels [28] ○ Physiological intraluminal blood flow appears as hourglass-shaped, consisting of two paired hyper-reflectivities inside vessel wall on OCT ○ Venous stasis in leukemic retinopathy disrupts normal intraluminal blood flow, leading to loss of this physiological appearance Fundus Fluorescein Angiography (FFA) is an imaging technique to demonstrate retinal vasculature with the use of intravenous sodium fluorescein and a specialized camera.…”