Department of Ophthalmology, Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
BMC Ophthalmol. 2023 Jul 6;23(1):300. doi: 10.1186/s12886-023-03057-2.
Sturge-Weber syndrome is a nonhereditary congenital neurocutaneous syndrome characterized by a distinctive facial capillary malformation,neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma.It can be divided into different subtypes according to different clinical manifestations. It is rare for a patient to present with isolated difuse choroidal hemangioma and ipsilateral abnormal conjunctival and episcleral vessels without other systemic symptoms.
We report a 30-year-old man with isolated diffuse choroidal hemangioma in his right eye without systemic symptoms, such as vascular malformations in the skin or leptomeningeal angiomatosis. The only additional ophthalmic finding was ipsilateral abnormal conjunctival and episcleral vessels without glaucoma. However, there was no evidence of leptomeningeal angiomatosis or port-wine stain on the right side of the face, or glaucoma, which are common clinical manifestations of the Sturge-Weber syndrome (SWS).The absence of these characteristic symptoms did not preclude the diagnosis, and the patient could be diagnosed with a particular subtype of SWS.
This is a rare case of documented isolated difuse choroidal hemangioma with ipsilateral abnormal conjunctival and episcleral vessels without glaucoma which we think it is belonging to a particular subtype of SWS.In addition to the traditional clinical manifestations, more and more atypical clinical manifestations are also accompanied by SWS, which requires our clinicians to continuously discover and report, so as to help more clinicians understand this disease.
Sturge-Weber 综合征是一种非遗传性先天性神经皮肤综合征，其特征为独特的面部毛细血管畸形、神经学异常以及眼部异常，如青光眼和脉络膜血管瘤。根据不同的临床表现，它可以分为不同的亚型。患者出现孤立性弥漫性脉络膜血管瘤且同侧结膜和巩膜血管异常而无其他全身症状的情况较为罕见。
我们报告了一例 30 岁男性患者，其右眼存在孤立性弥漫性脉络膜血管瘤，无皮肤血管畸形或软脑膜血管畸形等全身症状。唯一额外的眼部发现是同侧结膜和巩膜血管异常，无青光眼。然而，右侧面部没有软脑膜血管畸形或葡萄酒色斑，也没有青光眼，这是 Sturge-Weber 综合征（SWS）的常见临床表现。没有这些特征性症状并不排除诊断，患者可以被诊断为 SWS 的特定亚型。
这是一例罕见的有记录的孤立性弥漫性脉络膜血管瘤伴同侧结膜和巩膜血管异常而无青光眼的病例，我们认为它属于 SWS 的特定亚型。除了传统的临床表现外，越来越多的不典型临床表现也伴随着 SWS，这需要我们的临床医生不断发现和报告，以便帮助更多的临床医生了解这种疾病。
