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Article

The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant.

Ophthalmology. Retina - 1 Mar 2024

Bianco Lorenzo, Arrigo Alessandro, Antropoli Alessio, Del Fabbro Sebastiano, Mauro Luca, Pina Adelaide, Bandello Francesco, Battaglia Parodi Maurizio

Abstract excerpt

PURPOSE: To describe the retinal phenotype associated with the p.Pro101Thr BEST1 variant. DESIGN: Retrospective, observational case series. PARTICIPANTS: Patients diagnosed with bestrophinopathies in which molecular genetic testing identified the p.Pro101Thr BEST1 as well as healthy carriers among their first-degree relatives. METHODS: Medical records were reviewed to obtain data on family history and ophthalmic...

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Identifiers

PMID: 37717827
DOI: 10.1016/j.oret.2023.09.012

Genes

BEST1

Variants

Provenance

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