ABSTRACT
PURPOSE: 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. CONCLUSION: 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.
Subject(s)
Bardet-Biedl Syndrome/physiopathology , Visual Acuity/physiology , Adult , Age Factors , Bardet-Biedl Syndrome/diagnosis , Cross-Sectional Studies , Educational Status , Female , Health Services Needs and Demand , Humans , Life Style , Male , Middle Aged , Needs Assessment , Phenotype , United Kingdom , Young AdultABSTRACT
We report an observational prospective study to determine which local anaesthetic technique gave the most comfort during phacoemulsification (cataract) surgery. 1835 patients were recruited. 61.8% were female. Peribulbar (18.2%), subtenons (28.6%), and topical (53.2%) anaesthesia was used. The pain score was assessed by the visual analogue pain scale (VAPS) which ranged from 0 (no pain) to 10 (worse possible pain). The lowest mean pain score occurred in the subtenons group, mean VAPS 0.2 (95% CI 0.1-0.3). The mean pain scores for topical and peribulbar anaesthesia were 0.6 (95% CI 0.5-0.7) and 0.59 (95% CI 0.41-0.76) respectively. Subtenons anaesthesia gave the most comfort during phacoemulsification. Patients experienced more discomfort with 2nd eye surgery. Older patients and males had a higher pain threshold in all three anaesthetic groups.
