Krzystolik Karol, Stopa Marcin, Kuprjanowicz Leszek, Drobek-Slowik Monika, Cybulski Cezary, Jakubowska Anna, Gronwald Jacek, Lubiński Jan, Lubiński Wojciech
*Department of Ophthalmology, Pomeranian Medical University (PUM), Szczecin, Poland; †Department of Optometry and Visual System Biology, Poznan University of Medical Sciences, Poznan, Poland; and ‡Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University (PUM), Szczecin, Poland.
Retina. 2016 Feb;36(2):325-34. doi: 10.1097/IAE.0000000000000707.
To investigate spectrum of patients with Von Hippel-Lindau disease (VHL) that required pars plana vitrectomy and evaluate anatomical and functional outcomes of surgery.
Twenty-three patients who underwent surgery for advanced VHL eye disease were assessed by genetic tests, diagnostic tests for systemic lesions, and clinical eye examination. The vitrectomized eyes were divided into two groups: with or without retinotomy (group R vs. NR). Functional and anatomical outcome was analyzed and compared between the groups.
All patients had central nervous system hemangioblastomas and 57% had other systemic tumors. Point germline mutations, large partial deletions, and complete vhl gene deletions were found in 64%, 27%, and 9% of patients, accordingly. Destruction of hemangioblastomas by retinotomy, laser, or cryotherapy and anatomical attachment of the retina were achieved in all eyes. Preoperative mean distance best-corrected visual acuity was logarithm of the minimum angle of resolution 2.66 (20/9,140) in group R and 1.76 (20/1,150) in group NR (P < 0.05). At 6 months postoperatively, distance best-corrected visual acuity improved in 20 eyes (83%). After over 24 months postoperatively, distance best-corrected visual acuity remained better than preoperatively in 36% in the R group and in 70% in the NR group of eyes. During 24 months postoperatively in 17 eyes, new retinal capillary hemangiomas developed. The mean number of new retinal capillary hemangiomas per eye was higher in group R than in group NR (3.14 vs. 0.70; P < 0.01). In group R, number of new retinal capillary hemangioblastoma was higher in retinal segments where retinotomy was performed (n = 29) than in other areas (n = 13) (P < 0.01).
Advanced VHL eye disease correlates with occurrence of central nervous system and systemic lesions. Spectrum of vhl gene mutation in the patients corresponds to that of the general VHL population. Pars plana vitrectomy in advanced VHL eye disease can improve or preserve visual function, but postoperative progression of ocular VHL disease can be accelerated in cases where retinotomy is performed.
研究需要行玻璃体切割术的冯·希佩尔-林道病（VHL）患者的情况，并评估手术的解剖和功能结果。
对23例因晚期VHL眼病接受手术的患者进行基因检测、全身病变诊断检查和临床眼部检查。接受玻璃体切割术的眼睛分为两组：行视网膜切开术组（R组）和未行视网膜切开术组（NR组）。分析并比较两组的功能和解剖结果。
所有患者均患有中枢神经系统血管母细胞瘤，57%的患者患有其他全身肿瘤。分别在64%、27%和9%的患者中发现了点生殖系突变、大片段缺失和vhl基因完全缺失。所有眼睛均通过视网膜切开术、激光或冷冻疗法破坏了血管母细胞瘤并实现了视网膜的解剖附着。术前平均最佳矫正视力在R组为最小分辨角对数2.66（20/9140），在NR组为1.76（20/1150）（P<0.05）。术后6个月，20只眼（83%）的最佳矫正远视力有所提高。术后超过24个月，R组36%的眼睛和NR组70%的眼睛的最佳矫正远视力仍优于术前。在术后24个月内，17只眼中出现了新的视网膜毛细血管瘤。每只眼新出现的视网膜毛细血管瘤的平均数量在R组高于NR组（3.14比0.70；P<0.01）。在R组中，行视网膜切开术的视网膜节段（n=29）中新出现的视网膜毛细血管瘤数量高于其他区域（n=13）（P<0.01）。
晚期VHL眼病与中枢神经系统和全身病变的发生相关。患者中vhl基因突变谱与一般VHL人群的相符。晚期VHL眼病行玻璃体切割术可改善或保留视功能，但在进行视网膜切开术的情况下，眼部VHL疾病的术后进展可能会加速。
