Circumscribed choroidal hemangioma in Sturge-Weber syndrome

被引：0
|
作者：
Vetter, Anna [1 ]
Zimpfer, Annette [1 ]
Schneider, Bjoern [1 ]
Erbersdobler, Andreas [1 ]
Brockmann, Tobias [2 ,3 ]
Fuchsluger, Thomas [2 ]
Brockmann, Claudia [2 ]
机构：
[1] Univ Rostock, Inst Pathol, Strempelstr 14, D-18057 Rostock, Germany
[2] Univ Med Rostock, Klinik & Poliklin Augenheilkunde, Rostock, Germany
[3] Ernst Abbe Hsch Jena, Fachbereich SciTec, Jena, Germany
来源：
PATHOLOGIE | 2025年 / 46卷 / 01期
关键词：
SWS; GNAQ; GNA11; GNAS; Genetics; MANAGEMENT;
D O I：
10.1007/s00292-024-01373-y
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
We report on a 19-year-old patient with Sturge-Weber syndrome (SWS), accompanied by a Naevus flammeus, secondary glaucoma, and glaucomatous optic atrophy of the right eye. The painful and blind eye was enucleated. Histopathological analysis revealed a circumscribed choroidal hemangioma around the optic nerve and a smaller extrascleral hemangioma. Molecular genetic testing excluded GNA11, GNAQ, or GNAS mutations. Our work illuminates the clinical, histological, and molecular genetic aspects of this rare case, contributing to the differential diagnosis of ocular conditions in patients with SWS.
引用
收藏
页码：51 / 55
页数：5
相关论文
共 50 条
  • [1] A case of circumscribed choroidal hemangioma in Sturge-Weber syndrome in China
    Xiao-Lei Yin 1
    International Journal of Ophthalmology, 2011, (02) : 210 - 211
  • [2] A case of circumscribed choroidal hemangioma in Sturge-Weber syndrome in China
    Yin, Xiao-Lei
    Ye, Jian
    Yuan, Rong-Di
    Ji, Shu-Xing
    INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, 2011, 4 (02) : 210 - 211
  • [3] Sturge-Weber syndrome (choroidal hemangioma and glaucoma)
    Chen, TC
    Young, LH
    JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, 2005, 42 (05) : 320 - 320
  • [4] Combined therapy of a circumscribed choroidal hemangioma in contralateral Sturge-Weber syndrome with acetazolamide and lasercoagulation
    Althaus, C
    Sundmacher, R
    KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 1996, 208 (04) : 239 - 242
  • [5] Photodynamic Therapy of Choroidal Hemangioma in Sturge-Weber Syndrome, with a Review of Treatments for Diffuse and Circumscribed Choroidal Hemangiomas
    Tsipursky, Michael S.
    Golchet, Pamela R.
    Jampol, Lee M.
    SURVEY OF OPHTHALMOLOGY, 2011, 56 (01) : 68 - 85
  • [6] Diffuse and circumscribed choroidal hemangiomas in a patient with Sturge-Weber syndrome
    Scott, IU
    Alexandrakis, G
    Cordahi, GJ
    Murray, TG
    ARCHIVES OF OPHTHALMOLOGY, 1999, 117 (03) : 406 - 407
  • [7] Photodynamic Therapy for Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome
    Monteiro, Slvia
    Casal, Ines
    Santos, Marinho
    Meireles, Angelina
    CASE REPORTS IN MEDICINE, 2014, 2014
  • [8] Isolated Diffuse Choroidal Hemangioma: A Variant of Sturge-Weber Syndrome?
    Soto, Hansell
    Bowen, Randy C.
    Cebulla, Colleen
    McHugh, Kirk M.
    Singh, Arun D.
    JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, 2020, 57 (06) : E43 - E47
  • [9] Diffuse choroidal hemangioma in Sturge-Weber syndrome treated with brachytherapy
    Perez-Rueda, A.
    JOURNAL FRANCAIS D OPHTALMOLOGIE, 2021, 44 (03): : 475 - 476
  • [10] Oral Sirolimus for Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome
    Kalantary, Amy
    Halbert, Anne
    Franchina, Maria
    Jeffery, Rachael C. Heath
    O'Day, Rod
    Chen, Fred K.
    JAMA OPHTHALMOLOGY, 2024, 142 (06) : 585 - 587
12345