Proband ID | BEST1 variant | Agea [years] | BCVA bLE | BCVA bRE | logMAR cave | Mean BDSId [%] | |ΔΔEdim|e [kcal mol−1] | PMVAf | Estimated BEST1 variant pathogenicity |
---|---|---|---|---|---|---|---|---|---|
P4 | p.(Vla9Gly) | 27 | 0.0 | 0.6 | 0.30 | 17.6 | 34 | 0.29 | Likely non-pathogenic |
P17 | p.(Ser108Arg) | 26 | 0.1 | 1.0 | 0.55 | 32.6 | 96 | 0.59 | Likely pathogenic |