References:

  1.  Pasquay C. et al. Bestrophin I – phenotypes and functional aspects in Bestrophinopathies. Ophthalmic Genetics, Early Online, 1–20, 2013.
  2. Sepah, Yasir, et al. Fundus autofluorescence imaging: Fundamentals and clinical relevance. Saudi J Ophthal. 2014 Apr;28(2):111-6.
  3. Guziewicz K.E. et al. Bestrophinopathy: An RPE-Photoreceptor Interface Disease . Prog Retin Eye Res. 2017 May ; 58: 70–88.
  4. Boon C.J.F. et al. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res. 2009; 28.
  5. Coussa RG,et al.. Correlation of features on OCT with visual acuity and Gass lesion type in Best vitelliform macular dystrophy. BMJ Open Ophthalmol. 2021 Dec 7;6(1).
  6. Hufendiek, K. et al. Clinical heterogeneity in autosomal recessive bestrophinopathy with biallelic mutations in the BEST1 gene. Int J Mol Sci. 2020 (21), 9353.