Genetically Characterized Autosomal Recessive Bestrophinopathy (ARB) from Sri Lanka: A Three-Case Series with Novel BEST1 Variants (Conference Poster – ISGEDR 2025 September, Oslo)
<p dir="ltr"><b>Title:</b><br>Genetically Characterized Autosomal Recessive Bestrophinopathy (ARB) from Sri Lanka: A Three-Case Series with Novel BEST1 Variants (Conference Poster – ISGEDR 2025, Oslo)</p><p dir="ltr"><br></p><p d...
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2025
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| الملخص: | <p dir="ltr"><b>Title:</b><br>Genetically Characterized Autosomal Recessive Bestrophinopathy (ARB) from Sri Lanka: A Three-Case Series with Novel BEST1 Variants (Conference Poster – ISGEDR 2025, Oslo)</p><p dir="ltr"><br></p><p dir="ltr"><b>Description:</b><br>This poster was prepared for presentation in the Ophthalmic Genetics Poster Session at the International Society of Genetic Eye Diseases and Retinoblastoma (ISGEDR) 2025 Meeting (September 11–13, 2025, University of Oslo, Norway).</p><p dir="ltr"><br></p><p dir="ltr">It summarizes preliminary findings from the <b>first genetically confirmed Autosomal Recessive Bestrophinopathy (ARB) cohort in Sri Lanka</b>, identified through multimodal retinal imaging, electrophysiology, and whole-exome sequencing.</p><p dir="ltr"><b>Key findings:</b></p><ul><li>A 16-year-old with <b>two novel compound heterozygous BEST1 frameshift variants</b>, predicted loss-of-function.</li><li>A 25-year-old with a <b>homozygous pathogenic variant (p.Arg47His)</b>.</li><li>A 46-year-old with a <b>rare homozygous missense variant (p.Lys229Gln)</b>, currently classified as a <b>VUS</b>.</li></ul><p dir="ltr">The poster is intentionally focused on the <b>genetic aspects</b> of these cases. <b>Full imaging datasets and detailed clinical descriptions are withheld here</b> and will be reported in a forthcoming peer-reviewed publication.</p><p dir="ltr"><b>Purpose of Presentation:</b><br>The primary aim of this work is to present the <b>first genetically confirmed ARB cohort from Sri Lanka</b>, thereby establishing a reference point for future regional and global studies. In addition, the poster reports <b>novel BEST1 variants </b>that expand the global variant spectrum and invites expert input at ISGEDR on the interpretation of the VUS (p.Lys229Gln) as well as the structural and functional impact of the novel frameshift variants. This expert feedback will be incorporated into the forthcoming peer-reviewed publication.</p><p dir="ltr"><br></p><p dir="ltr"><b>Ethical Approval:</b><br>This study received approval from the Sri Jayewardenepura General Hospital (SJGH) Ethics Review Committee(Reference: SJGH/25/ERC/023).</p><p dir="ltr"><br></p><p dir="ltr"><b>ClinVar Submission:</b><br>All identified BEST1 variants from this case series are currently being submitted to <b>ClinVar</b> to ensure accessibility for international data sharing and variant curation.</p><p dir="ltr"><br></p><p dir="ltr"><b>Note:</b><br>This is a <b>conference poster</b>, not a peer-reviewed article. It represents preliminary findings with a focus on genetic aspects. The forthcoming detailed manuscript is provisionally titled <i>“</i><b><i>Autosomal Recessive Bestrophinopathy (ARB): Molecular and Translational Insights from a Clinical Case Series and a Scoping Review</i></b><i>”</i>. The scoping review component is currently underway, with title and abstract screening in progress in Covidence, and the combined work with expert genetics & molecular inputs from ISGEDR will be submitted to a high-impact ophthalmology journal.</p><p dir="ltr"><br></p><p dir="ltr"><b>Acknowledgement:</b><br>We acknowledge the clinical support of the Ophthalmology Department at Sri Jayewardenepura General Hospital, Sri Lanka, where these patients were evaluated, and the Centre for Genetics & Genomics, Faculty of Medicine, University of Colombo, for performing the genetic analyses.</p><p><br></p><p dir="ltr"><b>Contact:</b></p><ul><li>ORCID: <a href="" rel="noopener" target="_new">https://orcid.org/0000-0002-0727-6355</a></li><li>Email: <a href="" rel="noopener" target="_blank">sunethdayan82@gmail.com</a></li><li>LinkedIn: <a href="https://www.linkedin.com/in/dr-suneth-dayan-lindamulage-bb9a9150/" rel="noopener" target="_new">https://www.linkedin.com/in/dr-suneth-dayan-lindamulage-bb9a9150/</a></li></ul><p dir="ltr"><br></p> |
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