Choroidal neovascularization in Bardet-Biedl syndrome

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):52-4. doi: 10.3109/13816810.2011.603404.

Abstract

Purpose: To describe a case of choroidal neovascularization in a young patient with genetically-proven Bardet-Biedl syndrome.

Methods: Case description with fundus and anatomical photography and optical coherence tomography.

Patients: Single patient case description.

Results: Fundus photography and optical coherence tomography reveal the presence of previously-active choroidal neovascularization. Anatomical, historical, and genetic evidence confirm Bardet-Biedl syndrome in this individual.

Discussion: Choroidal neovascularization accompanying this syndrome has not been reported. Herein we describe the first published description of choroidal neovascularization in an individual with genetically-proven Bardet-Biedl syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Bardet-Biedl Syndrome / complications*
  • Bardet-Biedl Syndrome / diagnosis
  • Bardet-Biedl Syndrome / genetics
  • Choroidal Neovascularization / complications*
  • Choroidal Neovascularization / diagnosis
  • Diagnostic Techniques, Ophthalmological
  • Female
  • Fluorescein Angiography
  • Fundus Oculi
  • Humans
  • Tomography, Optical Coherence