An autopsy case of bullous retinal detachment and hypopyon in a patient with Philadelphia chromosome-positive acute lymphoblastic leukemia

Purpose

To report the clinical and histopathological features of a case of bullous retinal detachment, hypopyon, and optic disc swelling in a patient with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph + ALL).

Observations

A 65-year-old Japanese woman presented with bilateral blurry vision. Four years earlier, she had been diagnosed with Ph + ALL and received chemotherapy. At initial examination, optical coherence tomography revealed subretinal detachment resembling central serous chorioretinopathy. A similar finding had been detected 1 month earlier during the remission phase, when the patient visited a clinic. Subretinal detachment resolved after systemic chemotherapy. Five months later, while in complete remission, she developed unilateral iritis and elevated intraocular pressure in the right eye, which improved with topical steroid treatment. Ten months after the initial presentation, she returned with decreased vision in both eyes. A slit-lamp examination revealed hypopyon uveitis in the right eye. Fundus examination revealed bilateral bullous retinal detachment and optic disc swelling, which was more pronounced in the right eye. At the same time, a bone marrow biopsy confirmed relapse of ALL. Therefore, systemic and intrathecal chemotherapy was initiated; however, her condition deteriorated, and she died 2 weeks later. Autopsy revealed widespread leukemic infiltration throughout the ocular tissues, resulting in multiple ocular manifestations. The findings suggested that ocular infiltration occurred either hematogenously or through direct extension from the meninges.

Conclusion

Leukemic infiltration of the eye was pathologically confirmed in a patient with Ph + ALL who developed ocular manifestations during the remission phase. Ocular evaluation is essential for confirming ocular relapse of ALL, and patients should be closely monitored to enable early detection and timely intervention.