Sophie Scheidecker, Sarah Hull, Yaumara Perdomo, Fouzia Studer, Valérie Pelletier, Jean Muller, Corinne Stoetzel, Elise Schaefer, Sabine Defoort-Dhellemmes, Isabelle Drumare, Graham E. Holder, Christian P. Hamel, Andrew R. Webster, Anthony T. Moore, Bernard Puech, Hélène J. Dollfus

To describe a series of patients with Bardet-Biedl syndrome and predominantly retinal cone dysfunction, a previously only rarely reported association. Retrospective, observational case series. Seven patients with clinically proven Bardet-Biedl syndrome had undergone detailed ocular phenotyping, which included fundus examination, Goldmann visual fields, fundus autofluorescence imaging (FAF), optical coherence tomography (OCT) and electroretinography (ERG). Mutational screening in the BBS genes was performed either by direct Sanger sequencing or targeted next generation sequencing. All 7 patients had proven BBS mutations; one had a cone dystrophy phenotype on ERG and 6 had a cone-rod pattern of dysfunction. Macular atrophy was present in all patients, usually with central hypofluorescence surrounded by a continuous hyperfluorescent ring on fundus autofluorescence imaging. OCT confirmed loss of outer retinal structure within the atrophic areas. No clear genotype-phenotype relationship was evident. Patients with Bardet-Biedl syndrome usually develop early onset retinitis pigmentosa. In contrast, the patients described herein, with molecularly confirmed Bardet-Biedl syndrome, developed early cone dysfunction, including the first reported case of a cone dystrophy phenotype associated with the disorder. The findings significantly expand the phenotype associated with Bardet-Biedl Syndrome.