Ophthalmological Unit, Department of Clinical Sciences and Community Health, Ca' Granda Foundation-Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Australia.
Ophthalmology. 2014 Mar;121(3):709-18. doi: 10.1016/j.ophtha.2013.10.016. Epub 2013 Dec 4.
To determine the prevalence and spectrum of ocular fundus abnormalities in patients with β-thalassemia and to investigate risk factors for their development.
Cross-sectional, observational study.
A total of 255 patients with β-thalassemia major (TM) and β-thalassemia intermedia (TI) were consecutively recruited and investigated.
Patients underwent best correct visual acuity, indirect ophthalmoscopy, and fundus photography, including fundus autofluorescence (FAF) and near-infrared reflectance imaging using a confocal scanning laser ophthalmoscope (cSLO). Hematologic parameters were determined, including mean ferritin levels, aspartate amino transferase, alanine amino transferase, calcium, pre-transfusion hemoglobin, history of splenectomy, and liver iron concentration. Factors associated with the ocular phenotype were assessed using logistic regression.
Ocular phenotype as determined by clinical examination and used multimodal imaging.
A total of 153 patients (60.0%) affected by TM and 102 patients (40.0%) affected by TI participated, of whom 216 (84.7%) were receiving iron-chelating therapy. Ocular fundus abnormalities characteristic of pseudoxanthoma elasticum (PXE) were detected by cSLO in 70 of 255 patients (27.8%) and included peau d'orange (19.6%), angioid streaks (12.9%), pattern dystrophy-like changes (7.5%), and optic disc drusen (2.0%). Pseudoxanthoma elasticum-like changes were more frequent in patients with TI (P<0.001). Patients with PXE-like fundus changes were older than patients without these fundus changes (P<0.001). In both patients with TI and TM, age (P = 0.001) and splenectomy (P = 0.001) had the strongest association with presence of PXE-like fundus changes in multivariate analyses. A total of 43 of 255 patients (16.9%) showed increased retinal vascular tortuosity independently of the PXE-like fundus changes, which was associated with aspartate amino transferase (P = 0.036), hemoglobin (P = 0.008), and ferritin levels (P = 0.005).
Pseudoxanthoma elasticum-like fundus changes are a frequent finding in patients with β-thalassemia. In TI, these changes increase with duration or severity of the disease. This particular ocular phenotype suggests an ocular pathology similar to PXE. Retinal vascular tortuosity may be an additional disease manifestation independent of the PXE-like syndrome. Patients with long-standing disease requiring iron-chelating treatment and a history of splenectomy need regular ophthalmic checkups because they are at risk of developing PXE-like fundus changes and potentially of subsequent choroidal neovascularization.
确定β-地中海贫血患者眼部眼底异常的患病率和谱，并探讨其发展的危险因素。
横断面、观察性研究。
连续招募并调查了 255 名β-地中海贫血重型（TM）和β-地中海贫血中间型（TI）患者。
患者接受最佳矫正视力、间接检眼镜和眼底照相检查，包括眼底自发荧光（FAF）和共焦扫描激光检眼镜（cSLO）近红外反射成像。测定血液学参数，包括平均铁蛋白水平、天冬氨酸氨基转移酶、丙氨酸氨基转移酶、钙、输血前血红蛋白、脾切除术史和肝铁浓度。使用逻辑回归评估与眼部表型相关的因素。
临床检查和多模态成像确定的眼部表型。
共有 153 名 TM 患者（60.0%）和 102 名 TI 患者（40.0%）参与了研究，其中 216 名（84.7%）正在接受铁螯合治疗。cSLO 检测到 255 名患者中有 70 名（27.8%）存在特发性弹性假黄瘤（PXE）样眼部眼底异常，包括橘皮样变（19.6%）、血管样条纹（12.9%）、模式营养不良样改变（7.5%）和视盘玻璃疣（2.0%）。TI 患者中 PXE 样眼底改变更为常见（P<0.001）。有 PXE 样眼底改变的患者比没有这些眼底改变的患者年龄更大（P<0.001）。在 TI 和 TM 患者中，年龄（P=0.001）和脾切除术（P=0.001）在多变量分析中与 PXE 样眼底改变的存在具有最强的相关性。共有 255 名患者中的 43 名（16.9%）表现出视网膜血管迂曲，与 PXE 样眼底改变无关，这与天冬氨酸氨基转移酶（P=0.036）、血红蛋白（P=0.008）和铁蛋白水平（P=0.005）有关。
特发性弹性假黄瘤样眼底改变是β-地中海贫血患者的常见表现。在 TI 中，这些改变随疾病的持续时间或严重程度而增加。这种特殊的眼部表型提示眼部病理类似于 PXE。视网膜血管迂曲可能是一种独立于 PXE 样综合征的额外疾病表现。需要长期铁螯合治疗且有脾切除术史的患者需要定期进行眼科检查，因为他们有发生 PXE 样眼底改变和潜在脉络膜新生血管化的风险。
