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Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype.

Ophthalmic genetics - 1 Apr 2022

Chowdhury Susmita, Duvesh Roopam, Kumaran Manojkumar, Anjanamurthy Rupa, Kumar Jayant, Vanniarajan Ayyasamy, Devarajan Bharanidharan, Sundaresan Periasamy

Abstract excerpt

BACKGROUND: The diagnosis of retinal dystrophies can be challenging due to the spectrum of protean phenotypic manifestations. This study employed trio-whole-exome sequencing (trio-WES) to unveil the genetic cause of an inherited retinal disorder in a south Indian family. MATERIALS AND METHODS: Proband's initial ophthalmic examinations was performed in the year 2016. WES was performed on a proband-parent trio to...

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Angiotensin-Converting Enzyme Inhibitors
Angiotensin Receptor Antagonists
Bestrophins
Chloride Channels
Eye Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Eye Diseases, Hereditary

Retinal Diseases

Retinal Dystrophies

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Identifiers

PMID: 34751623
DOI: 10.1080/13816810.2021.1998553

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype.PMID 34751623Read ↗

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