Unilateral vision loss as the initial symptom of chronic myeloid leukemia with bilateral retinal infiltration: a case...

Ophthalmic manifestations as the initial presentation of chronic myeloid leukemia (CML) are rare.

This case describes a 38-year-old man who presented with unilateral severe vision loss alongside bilateral ocular findings, including intraretinal hemorrhages, vascular tortuosity, cotton wool spots, and optic disc edema. Ophthalmic imaging, particularly optical coherence tomography (OCT), revealed bilateral retinal involvement, which was more severe in the left eye despite worse vision in the right eye. Systemic evaluation revealed critical hyperleukocytosis, splenomegaly, and Philadelphia chromosome positivity, confirming CML. The subsequent MRI during remission showed no abnormality. Treatment with hydroxyurea and nilotinib rapidly normalized white blood cell counts and reached major molecular response (MMR) along with complete visual recovery and normal retina and optic nerve.

This case highlights the importance of recognizing ocular signs as potential indicators of life-threatening systemic diseases such as CML, warranting prompt diagnosis and intervention. Ocular signs not only help to confirm the primary diagnosis, but also may serve as a useful adjunctive marker for monitoring treatment response.