A novel mutation of BEST1 gene in Best disease.

Abstract:

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. Heterozygous mutation c.76G > A (p.Gly26Ser) in exon 2 of the BEST1 gene was found. CONCLUSION:These findings contribute to expand the mutation spectrum of BEST1 gene.

journal_name

Eur J Ophthalmol

authors

Campa C,Parmeggiani F,Spena R,Ognibene D,Passerini I,Gualandi F

doi

10.1177/1120672120920536

subject

Has Abstract

pub_date

2020-04-22 00:00:00

pages

1120672120920536

eissn

1120-6721

issn

1724-6016

pub_type

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