ArticleEye (London, England)2020
A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations.
Article in Eye (London, England), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 16 citations in OpenAlex.
- Acute postoperative complications after scleral fixation of Akreos AO60 intraocular lens.Journal of surgical case reports · 2026Article
- Case Report: Acute angle-closure glaucoma as the initial presentation of autosomal recessive bestrophinopathy caused by compound heterozygousFrontiers in medicine · 2026Article
- Re: Cazana et al.: A comparison of long-term results after Baerveldt 250 implantation in advanced uveitic vs. other forms of glaucoma. Graefes Arch Clin Exp Ophthalmol. 2018 Nov;256(11):2069-2073. doi: 10.1007/s00417-018-4106-6. Epub 2018 Aug 23.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2023Article
- Precision Medicine in Glaucoma: Artificial Intelligence, Biomarkers, Genetics and Redox State.International journal of molecular sciences · 2023Review
- Combination of Trabeculectomy and Primary Pars Plana Vitrectomy in the Successful Treatment of Angle-Closure Glaucoma with BEST1 Mutations: Self-Controlled Case Series.Ophthalmology and therapy · 2022Article
- Nontraumatic bilateral inferior ectopia lentis.Oman journal of ophthalmologyArticle
- Early vitrectomy in eyes with non-diabetic vitreous hemorrhage.Therapeutic advances in ophthalmologyArticle
- Stand-alone pars plana vitrectomy versus pars plana vitrectomy with retinopexy for retinal vasoproliferative tumors.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyArticle
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe availability and reduced cost of genotyping has improved gene susceptibility testing and our scientific understanding of disease pathophysiology. Whilst several personalised translational models exist within medical frameworks, genetic-based surgical therapy is a translational application not widely used in surgical specialties.
methodWe present a clinical series of five patients with genetically confirmed bestrophinopathy and malignant glaucoma (MG). Patients were followed up for 12 months or more after receiving surgical intervention to manage refractory intraocular pressure (IOP) resistant to medical treatment.
findingsPatients with BEST1 gene mutations are at higher risk of MG after filtration surgery. A multi-disciplinary approach after four patients experienced poor outcomes concluded that traditional first-line glaucoma surgery was not sufficient to prevent visual loss. A fifth patient presenting with the identified at-risk phenotype underwent primary pars plana vitrectomy, with pars plana Baerveldt tube insertion, successfully preventing MG and had no glaucoma progression after 5 years.
interpretationWe provide proof-of-principle that genetic analysis can be used to inform the selection of surgical therapy to improve outcomes. In this case, a refinement of current surgical methods to avoid MG. Although challenges remain, personalised surgery has the potential to improve clinical outcomes beyond the scope of current surgical practice.
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