title: Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
abstract: OBJECTIVE
  To describe a series of patients with Bardet-Biedl syndrome (BBS) and predominantly retinal cone dysfunction, a previously only rarely reported association.
  
  
  METHODS
  Retrospective observational case series.
  
  
  METHODS
  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.
  
  
  RESULTS
  All 7 patients had proven BBS mutations; 1 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Scheidecker
authors.affiliation: Inherited Eye Diseases, UCL Institute of Ophthalmology, London, and Moorfields Eye Hospital NHS Trust, London, United Kingdom.
authors.forename: Sarah
authors.initials: S
authors.lastname: Hull
authors.affiliation: Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France.
authors.forename: Yaumara
authors.initials: Y
authors.lastname: Perdomo
authors.affiliation: Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France.
authors.forename: Fouzia
authors.initials: F
authors.lastname: Studer
authors.affiliation: Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Pelletier
authors.affiliation: Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: Jean
authors.initials: J
authors.lastname: Muller
authors.affiliation: Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Stoetzel
authors.affiliation: Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France.
authors.forename: Elise
authors.initials: E
authors.lastname: Schaefer
authors.affiliation: Service d'exploration de la Vision et Neuro-ophtalmologie, CHRU de Lille, Lille, France.
authors.forename: Sabine
authors.initials: S
authors.lastname: Defoort-Dhellemmes
authors.affiliation: Service d'exploration de la Vision et Neuro-ophtalmologie, CHRU de Lille, Lille, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Drumare
authors.affiliation: Visual Neuroscience, UCL Institute of Ophthalmology, London, and Moorfields Eye Hospital NHS Trust, London, United Kingdom.
authors.forename: Graham E
authors.initials: GE
authors.lastname: Holder
authors.affiliation: Genetic Sensory Diseases, CHU Montpellier, Montpellier, France.
authors.forename: Christian P
authors.initials: CP
authors.lastname: Hamel
authors.affiliation: Inherited Eye Diseases, UCL Institute of Ophthalmology, London, and Moorfields Eye Hospital NHS Trust, London, United Kingdom.
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Webster
authors.affiliation: Inherited Eye Diseases, UCL Institute of Ophthalmology, London, and Moorfields Eye Hospital NHS Trust, London, United Kingdom; Department of Ophthalmology, University of California, San Francisco Medical School, san Francisco, California.
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Moore
authors.affiliation: Service d'exploration de la Vision et Neuro-ophtalmologie, CHRU de Lille, Lille, France.
authors.forename: Bernard
authors.initials: B
authors.lastname: Puech
authors.affiliation: Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France. Electronic address: dollfus@unistra.fr.
authors.forename: Hélène J
authors.initials: HJ
authors.lastname: Dollfus
mesh_terms: D000328:Adult; D020788:Bardet-Biedl Syndrome / Q000150:complications* / Q000235:genetics; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D017949:Retinal Cone Photoreceptor Cells / Q000502:physiology*; D012162:Retinal Degeneration / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D014794:Visual Fields
chemical_list: D005136:Eye Proteins; D004247:DNA