Avalos-Lara Samuel Josue, Antonio-Aguirre Bani, Perez-Ortiz Andric C, Mendoza Velásquez Cristina, Camacho-Ordoñez Azyadeh, Palacio Pastrana Claudia
Department of Microsurgery of the Anterior Segment, Fundación Hospital Nuestra Señora de la Luz IAP, Cuauhtemoc, Mexico.
Department of Molecular Biology and Biochemistry, Universidad Panamericana Escuela de Medicina, Benito Juarez, Mexico.
Case Rep Ophthalmol. 2020 Jul 14;11(2):356-363. doi: 10.1159/000508064. eCollection 2020 May-Aug.
Sturge-Weber syndrome (SWS) is a rare, sporadic neurocutaneous disorder, primarily characterized by port-wine stain (PWS) over the ophthalmic division of the trigeminal nerve (V1) territory (hallmark feature) and glaucoma (in 30-60% of cases). Other ocular manifestations include episcleral involvement of the PWS, choroidal vascular malformations, and iris heterochromia. Two previous reports also associated ectopia lentis concomitantly among these cases. However, here we report spherophakia as a novel ophthalmological finding in SWS. A 56-year-old female previously diagnosed with SWS presented to the outpatient clinic complaining of right-sided decreased visual acuity and pain after a fall. Phenotypically, the patient had a PWS around V1 territory and involvement of both eyelids. Previous relevant ocular history included retinal detachment without macular involvement, ocular hypertension, and phacodonesis. The slit-lamp examination showed anterior lens luxation and elevated intraocular pressure (IOP) of 40 mm Hg by tonometry. Prior to the surgical approach, the patient received hypotensive treatment for elevated IOP. After intracapsular lens extraction, measurements were consistent with spherophakia. Postoperatively, the patient underwent optical coherence tomography (OCT). There was cystic macular edema (CME) by OCT and a detached posterior hyaloid membrane. The patient fully recovered with topical treatment of bromfenac for CME. To the best of our knowledge, this is the first report of concomitant anterior lens luxation and spherophakia (novel association) in a SWS patient. Our findings supplement the differential ocular diagnoses in SWS and should be considered in the routine ocular exam, specifically of the anterior segment. CME occurred similar to otherwise healthy eyes. However, in this case, topical anti-inflammatory medications had a good response and were well-tolerated.
斯特奇-韦伯综合征（SWS）是一种罕见的散发性神经皮肤疾病，主要特征为三叉神经眼支（V1）区域出现葡萄酒色斑（PWS）（标志性特征）以及青光眼（30%-60%的病例中出现）。其他眼部表现包括PWS累及巩膜表层、脉络膜血管畸形和虹膜异色症。之前的两份报告还指出这些病例中伴有晶状体异位。然而，我们在此报告球形晶状体是SWS中一项新的眼科发现。一名先前被诊断为SWS的56岁女性到门诊就诊，主诉跌倒后右眼视力下降和疼痛。从表型上看，该患者V1区域周围有PWS，且双侧眼睑受累。既往相关眼部病史包括无视黄斑受累的视网膜脱离、高眼压症和晶状体震颤。裂隙灯检查显示晶状体前脱位，眼压测量显示眼压升高至40 mmHg。在采取手术方法之前，患者因眼压升高接受了降压治疗。囊内晶状体摘除术后，测量结果与球形晶状体相符。术后，患者接受了光学相干断层扫描（OCT）。OCT显示有黄斑囊样水肿（CME）和后玻璃体膜脱离。患者通过局部使用溴芬酸治疗CME后完全康复。据我们所知，这是SWS患者中首次报告同时出现晶状体前脱位和球形晶状体（新关联）。我们的发现补充了SWS的眼部鉴别诊断内容，在常规眼科检查，特别是前段检查中应予以考虑。CME的发生与其他健康眼睛相似。然而，在该病例中，局部抗炎药物反应良好且耐受性良好。
