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A novel mutation of BEST1 gene in Best disease

Claudio Campa¹, Francesco Parmeggiani¹, Rossella Spena^2,3,4

¹Eye Clinic, Arcispedale Sant' Anna University Hospital, Ferrara, Italy.

European Journal of Ophthalmology

|April 24, 2020

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.

Keywords:

Best vitelliform macular dystrophy genetic testing maculopathy retina

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