Ocular manifestations in phakomatosis pigmentovascularis: Current concepts on pathogenesis, diagnosis, and management

Surv Ophthalmol. 2021 May-Jun;66(3):482-492. doi: 10.1016/j.survophthal.2020.10.002. Epub 2020 Oct 13.


Phakomatosis pigmentovascularis is a rare congenital multisystemic disease with variable manifestations where a vascular malformation of the skin is associated with a pigmentary nevus. Ocular involvement includes glaucoma, choroidal hemangioma, and pigmentary alterations that predispose to uveal melanoma. Diagnosis is made on clinical grounds, although recent advances in molecular genetics have better clarified the etiopathogenesis of the condition. The advent of improved imaging techniques such as enhanced depth imaging spectral domain optical coherence tomography has provided new insight into the ocular alterations, enabling better follow-up of patients. We review the ophthalmic manifestations of the disease with an update on etiopathogenesis and current management strategies.

Keywords: Klippel-Trenaunay syndrome; Sturge-Weber syndrome; choroidal hemangioma; nevus flammeus; oculodermal melanocytosis; phakomatosis pigmentovascularis.

Publication types

  • Review

MeSH terms

  • Eye
  • Glaucoma* / complications
  • Humans
  • Melanoma* / diagnosis
  • Melanoma* / therapy
  • Neurocutaneous Syndromes* / complications
  • Neurocutaneous Syndromes* / diagnosis
  • Neurocutaneous Syndromes* / therapy
  • Uveal Neoplasms*