von Hippel-Lindau病伴视网膜毛细血管瘤的长期随访

Long-term Follow-up of Retinal Hemangioma Associated with von Hippel-Lindau Disease

[目的]探讨伴有视网膜毛细血管瘤的von Hippel-Lindau（VHL）病患者的长期预后.[方法]对9例伴有视网膜毛细血管瘤的VHL病患者进行长期随访,观察其眼部及其他系统病变.[结果]随访8～11年,平均9.1年.随访末期所有患者视网膜毛细血管瘤均双眼受累,共18眼,治疗前与随访末期最佳矫正视力不变的有12眼（66.7％）,提高1眼（5.6％）,下降5眼（27.7％）.随访末期5例（56.6％）合并肾肿瘤,5例（56.6％）合并中枢神经系统血管母细胞瘤,2例因肾细胞癌死亡.[结论]伴有视网膜毛细血管瘤的VHL病患者中,眼部视网膜毛细血管瘤病变经早期及时治疗远期效果稳定,中枢神经系统血管母细胞瘤和肾肿瘤是常见的其他系统病变,肾肿瘤的远期预后不良.VHL病的处理需要早期发现,多学科合作,规范随访,及时治疗.

[Objective]To investigate the long-term prognosis of the patients with retinal hemangioma associated with von HippelLindau （VHL） disease.[Methods]Nine patients with retinal hemangioma associated with VHL disease were followed up.The progresses and therapeutic results of retinal hemangioma and other tumors in different systems were observed.[Results]During a mean 9.1 years follow-up period （8-1 1 years）,retinal hemangioma occurred in both eyes of all patients.At the end of follow-up,compared with baseline,the best corrected visual acuity were stable in 12 eyes （66.7%）,improved in 1 eye （5.6%）,decreased in 5 eyes （27.7%）,renal tumor occurred in 5 patients （56.6%） and central nervous system haemangioblastoma occurred in 5 patients （56.6%）.2 patients died with renal cell carcinoma during the follow-up.[Conclusion]In the patients with retinal hemangioma associated with VHL disease,long-term results are stable with prompt early treatments for retinal hemangioma in the eyes.Central nervous system haemangioblastoma and renal cell carcinoma are the most frequent tumors in these patients while the latter has a poor prognosis.Management of VHL disease requires coordination from different medical specialties,periodic surveillance,early diagnosis and prompt treatment.