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Case Report

Retinal vascular abnormalities in a case of phakomatosis pigmentovascularis

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Pages 676-678 | Received 06 Feb 2023, Accepted 27 May 2023, Published online: 13 Jun 2023

References

  • Viada Peláez MC, Stefano PC, Cirio A et al. Facomatosis pigmentovascular tipo cesioflammea: a propósito de un caso [Phakomatosis pigmentovascularis cesioflammea: a case report]. Arch Argent Pediatr 2018; 116: e121–e124.
  • Thomas AC, Zeng Z, Rivière JB et al. Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis. J Invest Dermatol 2016; 136: 770–778. doi:10.1016/j.jid.2015.11.027.
  • Polubothu S, Bohm M, Fink C et al. Phakomatosis pigmentovascularis spilorosea and speckled lentiginous naevus syndrome are caused by mosaic mutations in gene PTPN11. Pediatr Dermatol 2019; 36: S7.
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  • Singh K, Dangda S, Mutreja A et al. Bilateral phacomatosis pigmentovascularis in a young male with developmental glaucoma and varicose veins. J Curr Glaucoma Pract 2018; 12: 94–98. doi:10.5005/jp-journals-10028-1251.
  • Thanos A, Shwayder T, Papakostas TD et al. Retinal vascular abnormalities in phakomatosis pigmentovascularis. Ophthalmol Retina 2019; 3: 1098–1104. doi:10.1016/j.oret.2019.07.004.
  • Sivaraj KK, Li R, Albarran-Juarez J et al. Endothelial Gαq/11 is required for VEGF-induced vascular permeability and angiogenesis. Cardiovasc Res 2015; 108: 171–180. doi:10.1093/cvr/cvv216.
  • Francis JH, Milman T, Grossniklaus H et al. GNAQ mutations in diffuse and solitary choroidal hemangiomas [published correction ophthalmology. 2021 Aug;128(8): 1245]. Ophthalmology 2019; 126: 759–763. doi:10.1016/j.ophtha.2018.12.011.

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