(S. Karger AG, 2015) Chiu, Cynthia S.; Mantopoulos, Dimosthenis; Lessell, Simmons; Cestari, Dean
Bardet-Biedl syndrome is a continuum of disorders characterized by systemic and ocular findings. Retinal abnormalities typically present as diffuse photoreceptor degeneration. Here, we report a novel case that suggests a rod-sparing variant of Bardet-Biedl syndrome.
