Eye
Conjunctiva
Sturge-Weber syndrome

Author: Deepali Jain, M.D. (see Authors page)

Revised: 24 April 2018, last major update August 2013

Copyright: (c) 2004-2018, PathologyOutlines.com, Inc.

PubMed Search: Sturge-Weber syndrome conjunctiva

Cite this page: Jain, D. Conjunctiva: Sturge-Weber syndrome. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/eyesturgeweberconjunctiva.html. Accessed July 19th, 2018.
Definition / general
Terminology
  • Also called encephalotrigeminal angiomatosis
Epidemiology
  • One in 20,000 to 50,000 live births
Sites
Pathophysiology
  • Endothelial layer of blood vessels shows increased proliferation and apoptosis
  • Increased expression of some vascular growth factors such as fibronectin and vascular endothelial growth factor and its receptor
  • Altered structure and function of blood vessels (Handb Clin Neurol 2013;111:315)
Clinical features
  • Type 1: facial angioma and pial (relating to pia mater) angioma with inconstant ophthalmological involvement
  • Type 2: facial angioma without pial angioma with inconstant ophthalmological signs
  • Type 3: isolated pial angioma (Handb Clin Neurol 2013;111:315)
  • Clinical images

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    Nevus flammeus of skin and conjunctiva
    with glaucoma and secondary cataract



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    Port wine spot and conjunctival involvement

    Microscopic (histologic) description
    • Conjunctival and episcleral vascular lesions (Eur J Ophthalmol 2000;10:239)
    • Endothelial layer of blood vessels shows increased proliferation and apoptosis
    • Cavernous hemangioma
    Microscopic (histologic) images

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    Diffuse hemangioma of choroid

    Molecular / cytogenetics description
    • Somatic mutation involving fibronectin
    • Candidate genes involved in vasculogenesis and neurogenesis
    • Chromosomal abnormalities as paracentric inversion or chromosome 10 trisomy in fibroblasts from affected skin areas (Handb Clin Neurol 2013;111:315)