A novel mutation of BEST1 gene in Best disease

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

Research output: Contribution to journalArticle


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.

Original languageEnglish
JournalEuropean Journal of Ophthalmology
Publication statusAccepted/In press - Jan 1 2020



  • Best vitelliform macular dystrophy
  • genetic testing
  • maculopathy
  • retina

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Campa, C., Parmeggiani, F., Spena, R., Ognibene, D., Passerini, I., & Gualandi, F. (Accepted/In press). A novel mutation of BEST1 gene in Best disease. European Journal of Ophthalmology. https://doi.org/10.1177/1120672120920536