Journal of Clinical and Experimental Ophthalmology
Open Access

Department of Ophthalmology, State University of Campinas Clinical Hospital, Campinas, Sao Paulo, Brazil

Publications

• Case Report   
  Klippel-Trenaunay Syndrome Ocular Manifestations: A Case Report
  Author(s): Renata Diniz Lemos*, Ahmad Mohamad Ali Hamade, Daniel Cunha Araujo, Leangelo Nicholas Hall, Michel Berezovsky and Mauricio Abujamra Nascimento
  
  Introduction: Klippel-Trenaunay Syndrome (KTS) is a rare congenital sporadic condition, which is clinically diagnosed by the presence of two of its classical triad features and is commonly seen at birth or early childhood. The triad is composed of cutaneous hemangiomas (port-wine-stains), varicosities, as well as bone and soft tissue hypertrophy, affecting between 2 to 5 in 100,000. Recently, KTS was found to be related to somatic mutations in the Phosphatidylinositol-4-5-biphosphate 3 Kinase Catalytic subunit (PIK3CA) gene, therefore, classified as a PIK3CA-related overgrowth spectrum. These mutations affect the embryological angiogenesis development stage. The KTS features are clinically variable, including systemic and ophthalmological signs and symptoms. Although it can affect nearly any part of the eye, the description of ophthalmological involvement is .. View More»
  DOI: 10.35248/2155-9570.24.15.985

  Abstract HTML PDF