■对Erdheim-Chester病(ECD)的眼部和眼眶表现进行全面综述,并比较维罗非尼(INN)与历史治疗(HT)的临床结果。主要结果是介绍时的眼科发现,视力的变化,和死亡率。次要结果包括眼部表现的进展,系统性参与,和治疗方式。
■搜索了1983年1月至2021年3月的所有已发表文献中的ECD的眼科表现。收集HT后的临床结果并与INN进行比较。
■确定了47例ECD和眼科表现的患者。平均年龄为49.6岁(SD=15.0)。突出症(65.6%)和眼外肌限制(42.5%)是最常见的表现体征。在放射学检查中,有41例(87.2%)眼眶肿块的患者中,90.2%为双侧,和53.7%位于内间隙。眼科检查是显著的Xanthellasma(27.2%),视盘水肿(34.0%),和视网膜下改变(21.3%)。常见的治疗方法是全身性类固醇(76.6%),干扰素-α(17.0%),和环磷酰胺(14.9%)。INN较不常用(12.8%)。logMAR视力的平均变化随HT(29.9%)下降,但随INN(79.1%)提高(p>0.05)。HT后视力完全丧失的眼比例增加(p<0.05)。与INN组(16.7%)相比,HT组(29.3%)的总死亡率为27.7%(p>0.05)。
■ECD表现为许多眼科表现。尽管眼内治疗仍存在争议,在治疗具有BRAF-V600E突变的眼眶ECD患者时应高度考虑INN,以预防和逆转视力丧失。
UNASSIGNED: To provide a comprehensive
review of ocular and orbital manifestations of Erdheim-Chester Disease (ECD) and compare clinical outcomes with vemurafenib (INN) to historical treatments (HT). Primary outcomes are ophthalmic findings on presentation, changes in visual acuity, and mortality rate. Secondary outcomes include the progression of ocular findings, systemic involvements, and treatment modalities.
UNASSIGNED: All published literature from January 1983 to March 2021 was searched for ophthalmic manifestations of ECD. Clinical outcomes following HT were collected and compared with INN.
UNASSIGNED: Forty-seven patients with ECD and ophthalmic presentations were identified. The mean age was 49.6 years (SD = 15.0). Proptosis (65.6%) and extraocular muscle restrictions (42.5%) were the most common presenting signs. Of 41 (87.2%) patients with orbital masses on radiologic examination, 90.2% were bilateral, and 53.7% were located in the intraconal space. Ophthalmic examination was significant for xanthelasma (27.2%), optic disc edema (34.0%), and subretinal changes (21.3%). Common treatments were systemic steroids (76.6%), interferon-α (17.0%), and cyclophosphamide (14.9%). INN was less commonly used (12.8%). The mean change in logMAR visual acuity declined with HT (29.9%) but improved with INN (79.1%) (p > 0.05). The proportion of eyes with complete vision loss increased after HT (p < 0.05). The overall mortality rate was 27.7% and notably higher in the HT group (29.3%) when compared to the INN group (16.7%) (p > 0.05).
UNASSIGNED: ECD presents with many ophthalmic manifestations. Although the intraocular treatments remain controversial, INN should be highly considered in treating orbital ECD patients with BRAF-V600E mutations to prevent and reverse vision loss.