Clinical Manifestations and Ophthalmic Outcomes of Leukemic Retinopathy and Optic Neuropathy in Patients With Acute Leukemia.

PURPOSE: To investigate the clinical manifestations and visual outcomes of leukemic retinopathy and optic neuropathy (LRON) in patients with acute leukemia.

METHODS

We recruited 276 patients with acute leukemia, 55 of whom had LRON. The ophthalmic measurements, treatment courses, laboratory data, and molecular profiling were retrospectively collected.

RESULTS

Patients with LRON were classified as type 1, type 2a, type 2b, and type 3. All patients with type 3 LRON had acute lymphoblastic leukemia (ALL), while the other types of LRON mainly occurred in patients with acute myeloid leukemia (AML). Patients with type 2b and type 3 LRON had worse initial best-corrected visual acuity (BCVA); none of the patients with type 3 LRON had recovery of BCVA during follow-up. The patients with AML with LRON were more likely to undergo hematopoietic stem cell transplantation (P < 0.001); their leukemic blasts more frequently expressed CD7 (P = 0.004) and CD38 (P = 0.048) and harbored DNMT3A (P = 0.017) and IDH1 (P = 0.041) mutations. Notably, the co-occurrence of DNMT3A, IDH1, and TET2 mutations was associated with a particularly high risk of LRON (odds ratio = 16.41). The patients with ALL with type 3 LRON had higher rates of central nervous system involvement (P = 0.041) and relapsed leukemia (P = 0.007). Nevertheless, the presence of LRON did not significantly affect survival in acute leukemia.

CONCLUSIONS

We characterized distinct clinical, genetic features and visual outcomes across LRON subtypes. Our study highlights the importance of prompt ophthalmic consultation and patient education regarding visual symptoms in acute leukemia.