目的报道1例恶性石骨症患儿进行造血干细胞移植后的远期视功能变化。方法 1岁2个月女性患儿,诊断为恶性石骨症,行HLA全相合的CD+34细胞分选的无血缘相关供者造血干细胞移植。采用视力、眼底检查、F-VEP、视神经管CT成像等方法评估视功能情况。随访5年。结果骨髓移植成功,血常规、肝脾肿大、骨硬化逐渐改善。最佳矫正视力缓慢提高,但是近视性屈光度数逐年增加,眼底视神经萎缩无好转,F-VEP可见大致正常波形,移植5年后视神经管直径较移植后1年反而变窄,随访期间曾有青光眼表现。结论造血干细胞移植是治愈恶性石骨症全身状况的可行方法。F-VEP、眼底检查是间接评价视功能的有效手段,但是不能直接反映视力状况。石骨症骨髓移植后导致视神经管继续狭窄的因素、以及石骨症是否会导致青光眼、高度近视,需要深入研究。 Objective To report the changes of long-term visual function after hematopoietic stem cell transplantation in 1 patient with malignant osteopetrosis. Methods One year old and two months old female children were diagnosed as malignant osteopetrosis with HLA-matched CD + 34 cell lineage-free hematopoietic stem cell transplantation. Visual acuity, fundus examination, F-VEP and optic canal imaging were used to assess visual function. Followed up for 5 years. Results Successful bone marrow transplantation, blood, hepatosplenomegaly, osteosclerosis gradually improved. The best corrected visual acuity increased slowly, but the number of myopia increased year by year, no improvement of fundus optic atrophy, F-VEP showed roughly normal waveform, 5-year after transplantation, the diameter of optic canal narrowed compared with 1 year after transplantation but had glaucoma which performed. Conclusion Hematopoietic stem cell transplantation is a feasible method to cure the general condition of malignant osteopetrosis. F-VEP, fundus examination is an indirect assessment of visual function as an effective means, but can not directly reflect the visual acuity. Factors that lead to continued stenosis of the optic canal after bone transplantation in osteosarcoma and whether or not osteopetrosis causes glaucoma and high myopia require further study.