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Article

BEST1 associated bestrophinopathies with angle closure and post-surgical malignant glaucoma.

Ophthalmic genetics - 1 Dec 2024

Parameswarappa Deepika C, Balasubramnian Jeyapoorani, Kumar Padhy Srikanta, Hansraj Saarang, Natarajan Ramya, Kannabiran Chitra, Garudadri Chandrasekhar, Senthil Sirisha

Abstract excerpt

INTRODUCTION: Mutations in BEST1 gene have been linked to the development of refractory angle closure glaucoma (ACG). This study aims to delineate the clinical characteristics, genetic mutations, and disease progression in patients with autosomal recessive bestrophinopathy (ARB) and autosomal dominant Best vitelliform macular dystrophy (BVMD) who are presented with treatment-resistant ACG. METHODS: This...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glaucoma, Angle-Closure

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Share to Tomography, Optical Coherence

Share to Vitelliform Macular Dystrophy

Source

Identifiers

PMID: 39259030
DOI: 10.1080/13816810.2024.2398827

Genes

BEST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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