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.

Sturge-Weber syndrome associated with monolateral ocular melanocytosis, iris mammillations, and diffuse choroidal haemangioma / Plateroti, Andrea Maria; Plateroti, Rocco; Mollo, Roberto; Librando, Aloisa; Contestabile, Maria Teresa; Fenicia, Vito. - In: CASE REPORTS IN OPHTHALMOLOGY. - ISSN 1663-2699. - STAMPA. - 8:2(2017), pp. 375-384. [10.1159/000477612]

Sturge-Weber syndrome associated with monolateral ocular melanocytosis, iris mammillations, and diffuse choroidal haemangioma

Plateroti, Andrea Maria
Primo
;
Plateroti, Rocco
Secondo
;
Librando, Aloisa;Contestabile, Maria Teresa
Penultimo
;
Fenicia, Vito
Ultimo
2017

Abstract

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.
2017
choroidal haemangioma; glaucoma; iris mammillations; ocular melanocytosis; phacomatosis pigmentovascularis; sturge-weber syndrome
01 Pubblicazione su rivista::01i Case report
Sturge-Weber syndrome associated with monolateral ocular melanocytosis, iris mammillations, and diffuse choroidal haemangioma / Plateroti, Andrea Maria; Plateroti, Rocco; Mollo, Roberto; Librando, Aloisa; Contestabile, Maria Teresa; Fenicia, Vito. - In: CASE REPORTS IN OPHTHALMOLOGY. - ISSN 1663-2699. - STAMPA. - 8:2(2017), pp. 375-384. [10.1159/000477612]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1279973
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