A novel mutation of BEST1 gene in Best disease. Issue 3 (May 2021)

• Record Type: Journal Article
• Authors: Campa, Claudio; Parmeggiani, Francesco; Spena, Rossella; Ognibene, Davide; Passerini, Ilaria; Gualandi, Francesca
• Is Part Of: European journal of ophthalmology. Volume 31:Issue 3(2021)
• Page Start: NP93
• Page End: NP95
• Publication Date: 2021-05
• Subjects: Best vitelliform macular dystrophy -- maculopathy -- retina -- genetic testing; Ophthalmology -- Periodicals; Eye -- Diseases -- Periodicals; 617.7005
• DOI: 10.1177/1120672120920536
• Languages: English
• ISSNs: 1120-6721

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.