title: Evaluation of visual function and needs in adult patients with bardet-biedl syndrome.
abstract: OBJECTIVE
  To assess the visual needs of the adult population with Bardet-Biedl syndrome (BBS) and to ensure that this is addressed by a national Bardet-Biedl Service.
  
  
  METHODS
  A cross-sectional analysis of all adults under a national BBS Clinic (Birmingham, United Kingdom) was performed using the BBS Ophthalmic Assessment Tool, a novel tool designed to capture the key elements of visual function, impact on lifestyle, and clinical findings relevant to BBS.
  
  
  RESULTS
  Sixty-two adult patients were confirmed to have BBS. Bardet-Biedl syndrome mutations were identified in 51, most commonly BBS1 (n = 35), BBS2 (n = 6), and BBS10 (n = 5). In 11 patients (18%), BBS had not been diagnosed until adulthood. Median visual acuity was hand motion (range, 0.0 logMAR-no perception of light). More advanced retinopathy was associated with increasing age, worsening visual acuity, and the presence of nystagmus. Forty patients (65%) had undertaken mainstream education with 29 (47%) achieving higher education; 7 patients (11%) had moderate or severe learning difficulties. Most (90%) were registered sight-impaired or severely sight-impaired patients.
  
  
  CONCLUSIONS
  The BBS Ophthalmic Assessment Tool provides a wide-ranging assessment of ophthalmic status and vision-related needs of the BBS population. This evaluation demonstrates the spectrum of visual disability in this population and its correlation with worsening retinopathy over time.
authors.affiliation: *Department of Ophthalmology, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom; †Academic Unit of Ophthalmology, University of Birmingham, Birmingham, United Kingdom; ‡Birmingham and Midland Eye Centre, Sandwell and West Birmingham NHS Trust, Birmingham, United Kingdom; §Institute of Child Health, University College London, London, United Kingdom; and ¶Birmingham Women's NHS Foundation Trust, Birmingham, United Kingdom.
authors.forename: Alastair K
authors.initials: AK
authors.lastname: Denniston
authors.forename: Philip L
authors.initials: PL
authors.lastname: Beales
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Tomlins
authors.forename: Peter
authors.initials: P
authors.lastname: Good
authors.forename: Maria
authors.initials: M
authors.lastname: Langford
authors.forename: Lukas
authors.initials: L
authors.lastname: Foggensteiner
authors.forename: Denise
authors.initials: D
authors.lastname: Williams
authors.forename: Marie D
authors.initials: MD
authors.lastname: Tsaloumas
mesh_terms: D000328:Adult; D000367:Age Factors; D020788:Bardet-Biedl Syndrome / Q000175:diagnosis / Q000503:physiopathology*; D003430:Cross-Sectional Studies; D004522:Educational Status; D005260:Female; D006301:Health Services Needs and Demand; D006801:Humans; D008019:Life Style; D008297:Male; D008875:Middle Aged; D020380:Needs Assessment; D010641:Phenotype; D006113:United Kingdom; D014792:Visual Acuity / Q000502:physiology*; D055815:Young Adult