Charkoudian Leon D, Barañano David E, Fortun Jorge, Yan Jiong, Srivastava Sunil K
Emory Eye Center, Atlanta, Georgia, USA.
Ophthalmic Genet. 2013 Mar-Jun;34(1-2):52-4. doi: 10.3109/13816810.2011.603404.
To describe a case of choroidal neovascularization in a young patient with genetically-proven Bardet-Biedl syndrome.
Case description with fundus and anatomical photography and optical coherence tomography.
Single patient case description.
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.
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.