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Hassanpour K, Nourinia R, Gerami E, Mahmoudi G, Esfandiari H. Ocular Manifestations of the Sturge–Weber Syndrome. JOVR [Internet]. 2021Jul.29 [cited 2024Jul.17];16(3):415–431. Available from: https://knepublishing.com/index.php/JOVR/article/view/9438
https://doi.org/10.18502/jovr.v16i3.9438
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authors
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Kiana Hassanpour
Kiana Hassanpour
Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran
-
Ramin Nourinia
Ramin Nourinia
Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran
-
Ebrahim Gerami
Ebrahim Gerami
Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran
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Ghavam Mahmoudi
Ghavam Mahmoudi
Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran
-
Hamed Esfandiari
Hamed Esfandiari
Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Published Date
- Jul 29, 2021
Ocular Manifestations of the Sturge–Weber Syndrome
Abstract
Sturge–Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a non-inherited congenital disorder characterized by neurologic, skin, and ocular abnormalities. A somatic activating mutation (R183Q) in the GNAQ gene during early embryogenesis has been recently recognized as the etiology of vascular abnormalities in SWS. Approximately, half of the patients with SWS manifest ocular involvement including glaucoma as the most common ocular abnormality followed by choroidal hemangioma (CH). The underlying pathophysiology of glaucoma in SWS has not been completely understood yet. Early onset glaucoma comprising 60% of SWS glaucoma have lower success rates after medical and surgical treatments compared with primary congenital glaucoma. Primary angle surgery is associated with modest success in the early onset SWS glaucoma while the success rate significantly decreases in late onset glaucoma. Filtration surgery is associated with a higher risk of intraoperative and postoperative choroidal effusion and suprachoroidal hemorrhage. CH is reported in 40–50% of SWS patients. The goal of treatment in patients with CH is to induce involution of the hemangioma, with reduction of subretinal and intraretinal fluid and minimal damage to the neurosensory retina. The decision for treating diffuse CHs highly depends on the patient’s visual acuity, the need for glaucoma surgery, the presence of subretinal fluid (SRF), its chronicity, and the potential for visual recovery.
Keywords:
Choroidal Hemangioma, Glaucoma, Ocular Manifestations, Sturge-weber Syndrome
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3. Behrman RE, Vaughan VC. Nelson textbook of pediatrics. J Dev Behav Pediatr 1988;9:239–243.
4. Ch’ng S, Tan ST. Facial port-wine stains – clinical stratification and risks of neuro-ocular involvement. J Plast Reconstr Aesthet Surg 2008;61:889–893.
5. Nguyen C, Yohn J, Huff C, Weston W, Morelli J. Facial port wine stains in childhood: prediction of the rate of improvement as a function of the age of the patient, size and location of the port wine stain and the number of treatments with the pulsed dye (585 nm) laser. Br J Dermatol 1998;138:821–825.
6. Waelchli R, Aylett SE, Robinson K, Chong WK, Martinez AE, Kinsler VA. New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk. Br J Dermatol 2014;171:861–867.
7. Comi AM. Topical review: pathophysiology of Sturge- Weber syndrome. J Child Neurol 2003;18:509–516.
8. Pascual-Castroviejo I, Díaz-Gonzalez C, García-Melian RM, Gonzalez-Casado I, Muñoz-Hiraldo E. Sturge- Weber syndrome: study of 40 patients. Pediatr Neurol 1993;9:283–288.
9. Pascual-Castroviejo I, Pascual-Pascual S-I, Velazquez- Fragua R, Viaño J. Sturge-Weber syndrome. Study of 55 patients. Can J Neurol Sci 2008;35:301–307.
10. Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, et al. Sturge–Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 2013;368:1971–1979.
11. Nakashima M, Miyajima M, Sugano H, Iimura Y, Kato M, Tsurusaki Y, et al. The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome. J Hum Genet 2014;59:691–693.
12. Tan W, Nadora DM, Gao L, Wang G, Mihm Jr MC, Nelson JS. The somatic GNAQ mutation (R183Q) is located within the blood vessels of port wine stains. J Am Acad Dermatol 2016;74:380.
13. Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, et al. Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome. Sci Rep 2016;6:22985.
14. Comi AM. Sturge–Weber syndrome. In: Islam MP, Roach ES, editors. Handbook of clinical neurology. Volume 132. Elsevier; 2015. p. 157–168.
15. Parsa CF. Focal venous hypertension as a pathophysiologic mechanism for tissue hypertrophy, port-wine stains, the Sturge–Weber syndrome, and related disorders: proof of concept with novel hypothesis for underlying etiological cause (an American Ophthalmological Society thesis). Trans Am Ophthalmol Soc 2013;111:180–215.
16. Levin AV, Enzenauer RW. The eye in pediatric systemic disease. Springer; 2017.
17. Cibis GW, Tripathi RC, Tripathi BJ. Glaucoma in Sturge- Weber syndrome. Ophthalmology 1984;91:1061–1071.
18. Phelps CD. The pathogenesis of glaucoma in Sturge- Weber syndrome. Ophthalmology 1978;85:276–286.
19. Mwinula JH, Sagawa T, Tawara A, Inomata H. Anterior chamber angle vascularization in Sturge-Weber syndrome. Report of a case. Graefes Arch Clin Exp Ophthalmol 1994;232:387–391.
20. Rosenbaum LJ. Glaucoma in Sturge-Weber syndrome. Birth Defects Orig Artic Ser 1982;18:645–649.
21. Ramírez JM, Ramírez AI, Salazar JJ, Rojas B, De Hoz R, Triviño A. Schlemm’s canal and the collector channels at different developmental stages in the human eye. Cells Tissues Organs 2004;178:180–185.
22. Shiau T, Armogan N, Yan DB, Thomson HG, Levin AV. The role of episcleral venous pressure in glaucoma associated with Sturge–Weber syndrome. J AAPOS 2012;16:61–64.
23. Maruyama I, Ohguro H, Nakazawa M. A case of acute angle-closure glaucoma secondary to posterior scleritis in patient with Sturge–Weber syndrome. Jpn J Ophthalmol 2002;46:74–77.
24. Su WW. Acute primary angle-closure in Sturge-Weber syndrome. Am J Ophthalmol Case Rep 2018;10:101–104.
25. Lee DH, Shin J, Seo JH, Byon IS, Jung JH, Lee JE. Mobile lens-induced angle closure glaucoma and rubeosis iridis in Sturge Weber syndrome. Int J Ophthalmol 2015;8:1080– 1082.
26. Comi AM. An overview of current and future treatment options for Sturge–Weber syndrome. Expert Opin Orphan Drugs 2014;2:1015–1025.
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