Plateroti Andrea Maria, Plateroti Rocco, Mollo Roberto, Librando Aloisa, Contestabile Maria Teresa, Fenicia Vito
Ophthalmology Unit, DAI Head and Neck, Azienda Ospedaliera Universitaria Policlinico Umberto I, University of Rome "Sapienza", Rome, Italy.
Ophthalmology Unit, St. Andrea Hospital, NESMOS Department, University of Rome "Sapienza", Rome, Italy.
Case Rep Ophthalmol. 2017 Jul 13;8(2):375-384. doi: 10.1159/000477612. eCollection 2017 May-Aug.
We present the case of a 12-year-old boy with Sturge-Weber syndrome and ocular melanocytosis who presented with bilateral naevus flammeus of the face and hyperpigmentation of the right iris associated with ipsilateral iris mammillations. The patient had glaucoma and a diffuse choroidal haemangioma of the right eye. Optical coherence tomography of the anterior segment confirmed iris hyper-pigmentation and did not show abnormalities of the chamber angle structures. B-scan ultrasonography and enhanced depth imaging optical coherence tomography were performed and showed a marked difference in thickness and reflectance between the right and left choroid. Visual field examinations with perimetry showed early defects in the right eye. Peripapillary optical coherence imaging showed borderline values of retinal nerve fibre layer thickness reduction in the right eye. Sturge-Weber syndrome associated with ocular melanocytosis and iris mammillations is an extremely rare condition. This paper highlights the role of multi-imaging methods in the enhanced evaluation of rare diseases towards choosing the most appropriate management strategies and improving the follow-up of patients over time.
我们报告了一例患有斯特奇-韦伯综合征和眼部黑素细胞增多症的12岁男孩，其表现为面部双侧葡萄酒色斑以及与同侧虹膜乳头状瘤相关的右眼虹膜色素沉着。该患者患有青光眼和右眼弥漫性脉络膜血管瘤。前段光学相干断层扫描证实了虹膜色素沉着增加，且未显示房角结构异常。进行了B超超声检查和增强深度成像光学相干断层扫描，结果显示左右脉络膜在厚度和反射率上存在显著差异。视野检查显示右眼早期出现缺损。视乳头周围光学相干成像显示右眼视网膜神经纤维层厚度减少处于临界值。斯特奇-韦伯综合征合并眼部黑素细胞增多症和虹膜乳头状瘤是一种极其罕见的病症。本文强调了多种成像方法在增强罕见病评估方面的作用，有助于选择最合适的管理策略并随着时间推移改善患者的随访情况。
