Table 1.
Clinical Data for Bestrophinopathy Patients
| Family: Member (Sex) | Allele 1/2 (AA Change) | Age at Exam (Onset) | Initial BCVA | Refraction | EOG Arden Ratio | Color Vision Score (axis) | Axial Length (ACD, mm) | IOP (mm Hg) | C/D | GVF | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| A: III,1 (F) | c.103G>A (p.Glu35Lys) | 6 (5) | OD | 20/32 | +1.00 +1.50 × 82 | 1.8 | 11/15 (D15, nonspecific) | 22.17 | 15 | 0.40 | NA |
| c.103G>A (p.Glu35Lys) | OS | 20/80 | +1.00 +1.75 × 90 | 0.88 | 13/15 (D15, nonspecific) | 22.46 | 15 | 0.40 | NA | ||
| B: III,1 (F) | c.422G>A (p.R141H) | 44 (3) | OD | 20/320 | +0.75 +2.50 × 180 | 1.64 | 1/15 (D15, Tritan) | 21.35 | 11 | 0.40 | Paracentral scotoma, constricted I1e, off-center I4e |
| c.830C>T (p.T277M) | OS | 20/320 | +3.25 +2.25 × 13 | Unable | 1/15 (D15, Tritan) | 21.11 | 11 | 0.50 | Paracentral scotoma, absent I1e and I2e, and off-center I4e | ||
| B: III,2 (F) | c.422G>A (p.R141H) | 39 (4) | OD | 20/200 | +2.00 +1.23 × 112 | NA | 3/15 (D15, Tritan) | 21.40 | 15 | 0.20 | Dense central scotoma, absent I1e |
| c.830C>T (p.T277M) | OS | 20/640 | +2.75 +1.25 × 32 | NA | 2/15 (D15, Tritan) | 21.73 | 16 | 0.20 | Dense central scotoma, absent I1e | ||
| C: II,2 (F) | c.671T>A (p.L224Q) | 24 (12) | OD | 20/125 | −2.00 Sph | NA | NA | NA | 15 | 1.00 | Central scotoma with constriction of I3e, I4e, III4e, and IV4e |
| c.353A>C (p.D118A) | OS | 20/800 | Sph Plano | NA | NA | NA | 17 | 0.30 | Central scotoma with absent I3e and I4e, constricted III4e and IV4e | ||
| D: IV,2 (F) | c.418C>G (p.L140V) | 32 (30) | OD | 20/80 | −0.75 +1.75 × 5 | 1.12 | 12/16 (Ishihara) | 21.11 | 40 (22*) | 0.60 | Central scotoma constriction of I1e, I2e, and I4e |
| c.418C>G (p.L140V) | OS | 20/100 | −0.25 +1.50 × 10 | 1.11 | 11/16 (Ishihara) | 20.84 | 15 | 0.50 | Central scotoma constriction of I1e, I2e, and I4e | ||
| E: IV,5 (F) | c.816_818delTGT (p.V273del) | 26 (4) | OD | 20/50 | −1.25 +1.75 × 101 | 1.14 | 12/15 (D15, Tritan) | 21.31 (2.15) | 20 | 0.60 | Absent I1e and constricted I4e |
| c.816_818delTGT (p.V273del) | OS | 20/40 | −0.50 +1.25 × 94 | 1.21 | 9/15 (D15, Tritan) | 21.14 (2.47) | 13 | 0.60 | Constricted I1e | ||
| F: III,1 (M) | c.122T>C (p.Leu41Pro) | 9 (9) | OD | 20/20 | +0.50 −0.50 × 168 | NA | 9/15 (D15, nonspecific) | 22.4 (3.44) | 21 | 0.30 | NA |
| c.422G>A (p.Arg141His) | OS | 20/50 | +0.50 −0.25 × 47 | NA | 13/15 (D15, nonspecific) | 22.8 (3.17) | 20 | 0.30 | NA | ||
| F: III,2 (F) | c.122T>C (p.Leu41Pro) | 10 (10) | OD | 20/25 | +3.75 −0.75 × 147 | NA | 11/15 (D15, nonspecific) | 21.05 (3.00) | 17 | 0.30 | NA |
| c.422G>A (p.Arg141His) | OS | 20/20 | +3.50 −0.75 × 38 | NA | 15/15 | 21.04 (2.92) | 16 | 0.30 | NA | ||
| G: II,1 (M) | c.604C>T (p.Arg202Trp) | 23 (23) | OD | 20/320 | −4.50 +2.25 × 97 | NA | NA | NA | 14 | NA | Constricted I4e, I1e absent |
| c.604C>T (p.Arg202Trp) | OS | 20/200 | −4.50 +0.50 × 170 | NA | NA | NA | 25 | NA | Constricted I4e, I1e absent | ||
| H: II,1 (F) | c.122T>C (p.Leu41Pro) | 60 (31) | OD | 20/300 | +10.50 sph | NA | NA | NA | 17 | 0.30 | Central scotoma without constriction |
| c.122T>C (p.Leu41Pro) | OS | 20/150 | +10.50 sph | NA | NA | NA | 14 | 0.30 | Normal in all isopters |
AA amino acid, ACD anterior chamber depth, C/D cup-to-disk ratio, GVF Goldmann visual field, NA not assessed.
*
IOP tested after laser peripheral iridotomy treatment for acute angle closure episode.