Autosomal Recessive Vitelliform Macular Dystrophy in a Large Cohort of Vitelliform Macular Dystrophy Patients

Abstract

The authors provide evidence that two abnormal BEST1 alleles, neither of which causes macular disease alone, can act in concert to cause early-onset vitelliform macular dystrophy.

Normal Electrooculography in Best Disease and Autosomal Recessive Bestrophinopathy

“…This was a higher number than expected, as although BEST1 mutations are associated with varied expression of the fundus phenotype, it is considered a rarity that the EOG light rise remains unaffected, with only a few individual cases reported. 3,[13][14][15][19][20][21][22][23][24] The present findings, when combined with published data, demonstrate that of the 269 unique BEST1 mutations thus far collated, at least 3.3% have now been associated with a greater than expected EOG amplitude (Table 1). 25 In collecting these data we are able to highlight two potential reasons whereby erroneous conclusions may be made when interpreting the results of either electrophysiological or genetic testing.…”

“…BEST1 gene screening identified the homozygous variant p.Arg47Cys, previously shown to cause ARB, also with a vitelliform rather than multifocal phenotype. 14,15 Patient 4 was diagnosed with BD aged 9 based on a vitelliform maculopathy and dominant family history. The EOG light rise to dark trough ratio was 180% bilaterally.…”

Frequency, Genotype, and Clinical Spectrum of Best Vitelliform Macular Dystrophy: Data From a National Center in Denmark

“…Autosomal recessive BEST1 mutations are usually associated with more severe retinal dystrophies, such as autosomal recessive bestrophinopathy (ARB) [1][2][3][4][5] and retinitis pigmentosa. 6 Best disease is considered a rare genetic disease, but the prevalence in still unknown.…”

A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy

“…6,[8][9][10] To date, several mutations in arBVMD cases have been reported. [1][2][3]5,11,12 These include homozygous and combinations of nonsense or missense mutations. In all of these cases, patients presented with central vision loss, characteristic retinopathy, absence of electro-oculogram light rise, and a reduced electroretinogram.…”

“…1 Homozygous or compound mutations in the BEST1 gene can cause autosomal recessive BVMD (arBVMD). [1][2][3][4][5][6] BEST1 is located on chromosome 11q13 and encodes the bestrophin-1 protein that localizes to the RPE. 1,7,8 The exact function of the bestrophin protein is not completely understood.…”