Leukemic retinopathy with rare presentation in B-cell acute lymphoblastic leukemia

Paurnima U Bodhankar; Divya Balakrishnan; Nadhna Basheer; Mahesh Gopalakrishnan; Giridhar Anantharaman

doi:10.4103/jcor.jcor_157_20

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Year : 2021 | Volume : 9 | Issue : 3 | Page : 138-141

Leukemic retinopathy with rare presentation in B-cell acute lymphoblastic leukemia

Paurnima U Bodhankar¹, Divya Balakrishnan², Nadhna Basheer², Mahesh Gopalakrishnan², Giridhar Anantharaman²
¹ Department of ophthalmology, Bharati Vidyapeeth (Deemed to Be) University Medical College and Hospital, Sangli, Maharashtra, India
² Department of Vitreo-Retina, Giridhar Eye Institute, Kochi, Kerala, India

Date of Submission	10-Aug-2020
Date of Decision	25-Mar-2021
Date of Acceptance	20-Apr-2021
Date of Web Publication	27-Sep-2021

Correspondence Address:
Paurnima U Bodhankar
Bharati Vidyapeeth (Deemed to Be) University Medical College and Hospital, Sangli, Maharashtra
India

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/jcor.jcor_157_20

Abstract

A 14-year-old male presented with blurring of vision, headache, and bilateral serous macular detachment (SMD) with thick choroid without any significant leak on fluorescein angiogram. As the imaging was inconclusive, we advised him thorough systemic evaluation. His platelet count was significantly reduced with a higher percentage of blast cells on peripheral smear. The diagnosis of B-cell acute lymphoblastic leukemia was confirmed by an oncologist on flow cytometry and was immediately started on chemotherapy. After a month, SMD resolved completely with the restoration of visual acuity. This case highlights the role of early diagnosis and urgent treatment before systemic manifestations reducing disease mortality.

Keywords: Acute lymphoblastic leukemia, enhanced depth imaging, optical coherence tomography, serous macular detachment

How to cite this article:
Bodhankar PU, Balakrishnan D, Basheer N, Gopalakrishnan M, Anantharaman G. Leukemic retinopathy with rare presentation in B-cell acute lymphoblastic leukemia. J Clin Ophthalmol Res 2021;9:138-41

How to cite this URL:
Bodhankar PU, Balakrishnan D, Basheer N, Gopalakrishnan M, Anantharaman G. Leukemic retinopathy with rare presentation in B-cell acute lymphoblastic leukemia. J Clin Ophthalmol Res [serial online] 2021 [cited 2023 Mar 25];9:138-41. Available from: https://www.jcor.in/text.asp?2021/9/3/138/326787

Leukemia classically present with systemic manifestations and almost 90% of patients develop retinal changes during the disease course, however, ocular findings are rare as the initial manifestation.^[1] Typical retinal findings in leukemia include white-centered retinal hemorrhages, cotton-wool spots, retinal vascular sheathing, and nodular infiltrates but the presence of SMD is uncommon.^[2]

SMD has been rarely reported in undiagnosed acute lymphoblastic leukemia (ALL). Here, we present a case of bilateral SMD with thick choroid on enhanced depth imaging optical coherence tomography (EDI-OCT) with atypical fundus fluorescein angiography (FFA) as initial presentation in a child with undiagnosed ALL.

Case Report

A 14-year-old male child presented to our clinic with a frontal headache of 1-week duration without any ocular complaints. On examination, his best-corrected visual acuity (BCVA) and anterior segment were unremarkable. On dilated fundus examination, the right eye (R/E) fundus was normal and the left eye (L/E) showed SMD. Deterioration of vision was noted when he presented 2 days later for ocular imaging. His BCVA in R/E was 20/120N36 and 20/30N8 in L/E. Anterior segment was normal and fundus examination showed multiple SMDs in both eyes (B/E) [Figure 1]a and [Figure 1]b.

Figure 1: (a and b) Baseline photograph of both eyes showing serous macular detachments confined to the posterior pole (white arrows). (c and d) Infrared reflectance images of both eyes showing well-demarcated focal areas of macular detachments with Optical coherence tomography through foveal section showing serous macular detachment with elongated photoreceptors at the roof of detachment

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Infrared reflectance images of B/E showed well-demarcated focal areas of macular detachments and spectral-domain OCT showed multiple pockets of SMD in B/E with the presence of hyperreflective dots at the roof of SMD due to elongated photoreceptors [Figure 1]c and [Figure 1]d. Fundus autofluorescence showed areas of hyperautofluorescence corresponding to area of inferior macular detachments and hypoautofluorescence at the foveal detachment [Figure 2]a and [Figure 2]b with increased choroidal thickness on EDI-OCT [Figure 2]c and [Figure 2]d. FFA did not reveal any significant leak or pooling except few small pinpoint leaks temporal to fovea in R/E without any disc leak [Figure 3]a, [Figure 3]b, [Figure 3]c. L/E FFA was normal [Figure 3]d, [Figure 3]e. [Figure 3]f.

Figure 2: (a and b) Baseline fundus autofluorescence showing hyperautofluorescence corresponding to the area of inferior macular detachments whereas hypoautofluorescence at the foveal detachment. (c and d) Enhanced depth imaging optical coherence tomography showing significant increase in choroidal thickness (white arrowheads)

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Figure 3: (a-c) Sequential fluorescein angiography of right showing few small point leaks temporal to fovea without any disc leak. (d-f) Left eye fluorescein angiography is normal

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As imaging was inconclusive a through systemic workup was advised including complete blood count (CBC) and peripheral blood smear. The CBC values were: hemoglobin-9.73 g/dL, total count-14,040 cells/cu.mm, red blood cells-3.28million/cu.mm, differential count [neutrophil 9%, lymphocyte 22%, monocyte 0.1%, eosinophil 0.1%] , erythrocyte sedimentation rate-55 mm/h. The peripheral blood smear showed normocytic normochromic anemia with 75% blast cells and reduced platelets count to 90,000 cell/mm². He was then referred to an oncologist who performed a bone marrow aspirate which revealed hypercellular marrow with >90% blasts and biopsy showed 100% cellularity with replacement of normal hematopoietic cells by blasts. The flow cytometry showed common acute lymphoblastic leukemia antigen positivity (CALLA +ve) with 91.1% blasts with CD-45 expressivity which confirmed the diagnosis of ALL. He was started on chemotherapy with oral steroids by an oncologist immediately. After 4 weeks, his BCVA improved to 6/6N6 with complete disappearance of SMD clinically [Figure 4]a and [Figure 4]b. On SD-OCT with combined EDI-OCT showed a complete resolution of SMD, restoration of foveal contour, intact ellipsoid zone, and reduction in choroidal thickness with more organized architecture [Figure 4]c and [Figure 4]d.

Figure 4: (a and b) Photograph of both eyes after 1 month of treatment showing complete disappearance of macular detachments. (c and d) Spectral-domain optical coherence tomography combined with enhanced depth imaging showing complete resolution of macular detachment with restoration of foveal contour, intact ellipsoid zone, and reduction in choroidal thickness with more organized architecture

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Discussion

The ophthalmic manifestations of leukemia could result from primary/direct leukemic infiltration of ocular tissues or secondary/indirect ocular involvement following systemic leukemic changes such as anemia, thrombocytopenia, hyperviscosity, or due to chemotherapy itself. These can present as retinal or vitreous hemorrhage, infections, and vascular occlusions.^[3] Serous detachment of the macula as the initial sign of ALL has only rarely been reported.^{[2],[4],[5],[6],[7]}

In the Indian scenario, a study by Koshy et al. found direct choroidal infiltrate in only 2% of the study population highlighting the rarity of serous detachment.^[8] The mechanism is hypothesized to be due to leukemic infiltration into the choroid producing decreased blood flow in the choriocapillaris. The resulting ischemia to the overlying retinal pigment epithelium and disruption of the intercellular tight junctions is thought to lead to the development of an overlying serous detachment.^[2] Choroidal thickness in leukemia has also shown to be significantly increased compared to normal.^[9] Our patient presented with visual complaints, SMD on SD-OCT with increased choroidal thickness. Unlike the fluorescein angiogram described by Malik et al.,^[10] in our case, no significant leak or pooling of the dye was noted creating a diagnostic dilemma, reason for this could be diagnosis at very early phase of the disease. Adam et al. reported EDI OCT changes of increased choroidal thickness and hyperreflectivity as a marker of leukemic choroidopathy in a 23-year-old caucasian male with initial undiagnosed leukemia.^[11] In our case also similar EDI-OCT changes were seen with reduction in choroidal thickness and improvement in overall choroidal architecture post chemotherapy. Additionally, we also demonstrated the choroidal status changes over a period of disease course on EDI-OCT. The differentials were central serous retinopathy, Haradas disease, malignant hypertension, posterior scleritis, and metastasis of systemic lymphoma at the level of choroid. However, central serous retinopathy with bilateral SMD in the second decade is rare; also the SD-OCT and FFA lacked the characteristic findings of Haradas disease with the absence of other systemic findings to support this diagnosis. Malignant hypertension could present as exudative retinal detachment but blood pressure recorded was normal without other associated features of hypertensive retinopathy. The absence of ocular pain, anterior uveitis and bilateral presentation ruled out posterior uveitis. Fukutsu et al. presented the pseudo inflammatory imaging characteristics of metastatic choroidal lymphoma masquerading as Vogt-Koyanagi-Harada (VKH) disease.^[12] In their case, choroidal lymphoma presented with bilateral SMD with multiple pinpoint leaks on FFA very similar to the VKH signs, however, the ICGA and laser speckle flowgraphy showed the presence of well-marginated hypofluorescent small dots and decreased choroidal circulation respectively with no response to steroids atypical for the finding of VKH disease. In our case unfortunately, the ICGA was not done but atypical FFA feature leads to suspicion of malignancy. Adaniya et al. had shown a similar presentation in previously diagnosed case of ALL relapsing with ocular involvement and complete resolution after starting systemic treatment.^[13] To the best of our knowledge, this is the first case to demonstrate the bilateral SMD with thick choroid on SD-OCT with enhanced depth imaging and atypical angiographic feature as initial presenting sign of undiagnosed B-cell ALL.

Conclusion

This case highlights the importance of thorough systemic workup in children presenting with bilateral SMD on SD-OCT and increased choroidal thickness on EDI-OCT without any systemic manifestation of ALL. Early diagnosis and prompt treatment may prevent mortality with the restoration of visual function in such scenario.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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