Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome

Formisano, Martina; Pippo, Mariachiara Di; Scuderi, Luca; Abdolrahimzadeh, Solmaz

doi:10.1080/13816810.2021.1910963

Cited by 16 publications

(14 citation statements)

References 60 publications

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“…In 2019, Bichsel et al [ 89 ] showed that the mutation found in most sporadic capillary malformations, GNAQ R183Q, was present in the choroidal vessels at a similar frequency to that found in SWS brain tissue, suggesting an analogous choroidal capillary malformation cause. Anti-VEGF use alone is neither resolutive nor indicated, but recent publications are showing the utility of adding anti-VEGF agents to PDT to counter the effect of PDT-induced high VEGF levels [ 90 ]. These results indicate that CNV and choroidal capillary malformations follow different pathways, but the development of new vessel complexes in SWS could still represent a potential complication [ 80 ].…”

Section: Resultsmentioning

confidence: 99%

Choroidal Neovascular Membranes in Retinal and Choroidal Tumors: Origins, Mechanisms, and Effects

Staso

Pippo

Abdolrahimzadeh

2023

IJMS

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Choroidal neovascularizations are historically associated with exudative macular degeneration, nonetheless, they have been observed in nevus, melanoma, osteoma, and hemangioma involving the choroid and retina. This review aimed to elucidate the possible origins of neovascular membranes by examining in vivo and in vitro models compared to real clinical cases. Among the several potential mechanisms examined, particular attention was paid to histologic alterations and molecular cascades. Physical or biochemical resistance to vascular invasion from the choroid offered by Bruch’s membrane, the role of fibroblast growth factor 2 and vascular endothelial growth factor, resident or recruited stem-like/progenitor cells, and other angiogenic promoters were taken into account. Even if the exact mechanisms are still partially obscure, experimental models are progressively enhancing our understanding of neovascularization etiology. Choroidal neovascularization (CNV) over melanoma, osteoma, and other tumors is not rare and is not contraindicative of malignancy as previously believed. In addition, CNV may represent a late complication of either benign or malignant choroidal tumors, stressing the importance of a long follow-up.

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Section: Resultsmentioning

confidence: 99%

Choroidal Neovascular Membranes in Retinal and Choroidal Tumors: Origins, Mechanisms, and Effects

Staso

Pippo

Abdolrahimzadeh

2023

IJMS

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“…Mutations in G protein alpha subunits, GNAQ and GNA11, and more rarely CYSLTR2 and PCLB4, are most commonly associated with uveal nevus and melanoma and more rarely with cutaneous or conjunctival melanoma 16 , 17 but they have also been associated with choroidal hemangioma, particularly in patients with Sturge-Weber syndrome. 18 They are thought to be mutually exclusive initiator mutations found in the majority of uveal melanomas but are not known to play a major role in uveal lymphoma. Secondary driver mutations including EIF1AX, SF3B1, SRSF2, and BAP1 correlate with patient outcome, and in the setting of an initiator GNAQ or GNA11 mutation, are likely indicative of a uveal melanoma.…”

Section: Discussionmentioning

confidence: 99%

Large extraocular extension of a choroidal melanoma with orbital inflammation

Henry

Ebert

Nicola

et al. 2023

American Journal of Ophthalmology Case Reports

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“…Enhanced depth imaging optical coherence tomography (EDI-OCT) can show the choroid in vivo, and it can be seen that choroidal thickening occurs obviously in the eyes with DCH [23,24]. Fluorescein angiography (FFA) and indocyanine green angiography (ICGA) can present DCH better [25], but both are invasive and the cooperation of young patients can be challenging.…”

Section: Discussionmentioning

confidence: 99%

Clinical characteristics of infants with port-wine stain and glaucoma secondary to Sturge–Weber Syndrome

Yan

Cui

et al. 2022

BMC Ophthalmol

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Background Sturge–Weber Syndrome (SWS) is a rare disease involving the eye, skin, and brain. Port-wine stain (PWS) and glaucoma are common clinical manifestations. This study analysed the clinical characteristics of infants with PWS and glaucoma secondary to SWS. Methods Children with PWS and glaucoma secondary to SWS were enrolled. Data were extracted from ophthalmic and systemic examination findings. Ocular examinations included intraocular pressure, anterior segment and fundus examination, and ocular A-scan and B-scan ultrasonography. Results Fifty-seven patients were included, with a mean age of 9.9 ± 11.9 months, and 34 (59.6%) patients were male. In all, 61 eyes were diagnosed with glaucoma. Forty-one patients (71.9%) had unilateral facial PWS and glaucoma occurred on the same side. Eight patients (14.0%) had Mongolian spots and ten patients (17.5%) had epilepsy. Corneal changes included corneal oedema (n = 36 eyes, 59.0%), corneal opacity (n = 15 eyes, 24.6%), and Haab lines (n = 13 eyes, 21.3%). Mean corneal diameter and thickness in the eyes with glaucoma was larger than those in the unaffected eyes (12.2 ± 0.7 mm vs 10.8 ± 0.6 mm, P < 0.001; 681.2 ± 106.4 µm vs 578.2 ± 58.2 µm, P < 0.001). The eyes with glaucoma had higher IOP and larger axial length and C/D ratio (19.3 ± 6.2 mmHg vs 11.6 ± 4.2 mmHg, P < 0.001; 21.23 ± 1.93 mm vs 19.68 ± 1.61 mm, P < 0.001; and 0.57 ± 0.18 vs 0.24 ± 0.15, P < 0.001). Thirty-three (57.9%) and 25 (43.9%) patients showed diffuse choroidal haemangioma (DCH) and conjunctival/episcleral haemangiomas, respectively. Ten patients (17.5%) showed iris anterior insertion or hyperpigmentation in the anterior chamber angles. Six of them had Mongolian spots at the same time. Conclusions Monocular glaucoma, DCH, and conjunctival/episcleral haemangiomas are common in SWS patients with PWS and glaucoma. Glaucomatous eyes have larger corneal diameter and axial length and thicker cornea. Patients with Mongolian spots have higher incidence of iris anterior insertion or hyperpigmentation in anterior chamber angle.

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Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome

Cited by 16 publications

References 60 publications

Choroidal Neovascular Membranes in Retinal and Choroidal Tumors: Origins, Mechanisms, and Effects

Choroidal Neovascular Membranes in Retinal and Choroidal Tumors: Origins, Mechanisms, and Effects

Large extraocular extension of a choroidal melanoma with orbital inflammation

Clinical characteristics of infants with port-wine stain and glaucoma secondary to Sturge–Weber Syndrome

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