Choroidal neovascularization in Bardet-Biedl syndrome. (June 2013)

• Record Type: Journal Article
• Authors: Charkoudian, Leon D.; Barañano, David E.; Fortun, Jorge; Yan, Jiong; Srivastava, Sunil K.
• Is Part Of: Ophthalmic genetics. Volume 34:Number 1/2(2013:Mar./Jun.)
• Page Start: 52
• Page End: 54
• Publication Date: 2013-06
• Subjects: Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.3109/13816810.2011.603404
• Languages: English
• ISSNs: 1381-6810

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p> <italic>Purpose:</italic> To describe a case of choroidal neovascularization in a young patient with genetically-proven Bardet-Biedl syndrome.</p> <p> <italic>Methods:</italic> Case description with fundus and anatomical photography and optical coherence tomography.</p> <p> <italic>Patients:</italic> Single patient case description.</p> <p> <italic>Results:</italic> 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.</p> <p> <italic>Discussion:</italic> 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.</p> </abstract>