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Published on: February 11, 2014
Evaluation of visual function and needs in adult patients with bardet-biedl syndrome
Alastair K Denniston1, Philip L Beales, Paul J Tomlins
1*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.
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.
