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Article

A novel mutation of BEST1 gene in Best disease.

European journal of ophthalmology - 1 May 2021

Campa Claudio, Parmeggiani Francesco, Spena Rossella, Ognibene Davide, Passerini Ilaria, Gualandi Francesca

Abstract excerpt

PURPOSE: To describe a new genetic variation of BEST1 gene in Best vitelliform macular dystrophy. METHODS: A patient with bilateral multiple retinal yellowish lesions at the posterior pole underwent fluorescein angiography, fundus autofluorescence, optical coherence tomography, electrooculogram and blood sample for genetic testing. RESULTS: A diagnosis of a Best vitelliform macular dystrophy was made....

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Identifiers

PMID: 32321300
DOI: 10.1177/1120672120920536

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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