Evaluation of visual function and needs in adult patients with Bardet-Biedl syndrome
Retina, ISSN: 1539-2864, Vol: 34, Issue: 11, Page: 2282-2289
2014
- 27Citations
- 29Captures
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Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
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Metrics Details
- Citations27
- Citation Indexes25
- 25
- CrossRef19
- Policy Citations2
- Policy Citation2
- Captures29
- Readers29
- 29
Article Description
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.
Bibliographic Details
http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84926480279&origin=inward; http://dx.doi.org/10.1097/iae.0000000000000222; http://www.ncbi.nlm.nih.gov/pubmed/25170860; http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:landingpage&an=00006982-201411000-00016; https://journals.lww.com/00006982-201411000-00016; https://dx.doi.org/10.1097/iae.0000000000000222; https://insights.ovid.com/crossref?an=00006982-201411000-00016
Ovid Technologies (Wolters Kluwer Health)
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