Table 2.
Clinical Features and Results of the WFS1 Gene Variants Screening of the Patients
| BCVA (OD/OS) | Onset Age (Year) | WFS1 Variants | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient ID | Gender | Exam Age | Snellen | logMar | DM | OA | DI | D | UD | Color Blindness (OD/OS) | Other Manifestations | Allele1 | Allele2 |
| A534 | F | 36 | 0.1/0.1 | 1.0/1.0 | 32 | 33 | — | — | — | NA | — | p.(G674R) | p.(G674R) |
| A600 | F | 43 | 0.1/0.06 | 1.0/1.22 | 21 | 25 | 41 | — | 41 | NA | Cataract, od | p.(R558C) | p.(P724R) |
| A610 | M | 31 | 0.02/FC | 1.7/1.85 | 21 | 8 | — | — | 29 | NA | — | p.(R629W) | p.(I845S) |
| A788 | M | 16 | 0.03/0.05 | 1.52/1.3 | 3 | 11 | — | — | — | NA | Od | p.(A370Rfs*76) | p.(W700C) |
| A792 | M | 7 | 0.2/0.5 | 0.7/0.3 | 4 | 4 | — | #9 | — | G/G | Cataract, TOF, BI | p.(A370Rfs*76) | p.(A370Rfs*76) |
| A860 | M | 7 | 0.3/0.2 | 0.52/0.7 | 5 | 6 | — | — | 7 | NA | OS:RAPD(+), cataract, BI | p.(P428H) | p.(S469Ifs*74) |
| A1041 | M | 19 | 0.07/0.1 | 1.15/1.0 | 5 | 14 | — | — | — | T/T | OD:RAPD(+) | p.(E169K) | p.(G674R) |
| A1972 | M | 10 | 0.4/0.6 | 0.4/0.22 | 3 | 9 | 10 | 10 | — | T/G | — | p.(D151Efs*3) | p.(V434del) |
| A2018 | M | 16 | 0.5/0.5 | 0.3/0.3 | 4 | 13 | — | 5 | 16 | G/G | Cataract | p.(V509_Y513del) | c.928_1183dup |
| A2072 | M | 9 | 0.1/0.08 | 1.0/1.1 | 8 | 8 | — | — | 8 | G/G | Cataract | p.(W540G) | p.(F883Lfs*56) |
| A2363 | F | 7 | 0.2/0.15 | 0.7/0.82 | 5 | 7 | — | #9 | – | YB/T | — | p.(Y534D) | p.(Y534D) |
| A2764 | M | 36 | 0.1/0.02 | 1.0/1.7 | – | 28 | — | — | 34 | T/T | — | p.(C429R) | p.(C690Wfs*17) |
| A3301 | M | 17 | 0.08/0.04 | 1.1/1.4 | 10 | 12 | — | — | 17 | G/G | Nystagmus, cataract | p.(L723P) | p.(L723P) |
| A3537 | M | 11 | 0.8/0.6 | 0.1/0.22 | 9 | 8 | — | 10 | — | R/RG | #died around 13 y | p.(P346L) | c.-6+6T>C |
| A3784 | F | 12 | 0.25/0.15 | 0.6/0.82 | 3 | 9 | — | 9 | — | T/RG | #MD (14y) | g.6237437-6307683del | g.6237437-6307683del |
| A3790 | M | 13 | 0.1/0.3 | 1.0/0.52 | 2 | 7 | 13 | 13 | — | RG/RG | — | p.(Y669C) | p.(F881fs*69) |
| A3840 | M | 14 | 0.3/0.2 | 0.52/0.7 | 13 | 13 | 14 | — | — | T/T | #depression & FI (16y) | p.(Y508Cfs*34) | p.(A716T) |
| A3989 | F | 10 | 0.2/0.2 | 0.7/0.7 | 2 | 9 | — | 10 | 10 | RG/RG | — | p.(E809*) | p.(E809*) |
| A4048 | F | 11 | 0.7/0.7 | 0.16/0.16 | 9 | 9 | — | — | — | NA | — | p.(V412A) | p.(Y652*) |
| A4170 | F | 29 | 0.02/0.02 | 1.7/1.7 | 12 | 18 | — | — | — | RG/RG | — | p.(M518T) | c.712+681C>T |
| A4212 | M | 20 | 0.4/0.4 | 0.4/0.4 | 19 | 15 | — | — | — | RG/RG | — | p.(R558H) | p.Y739* |
| A4581 | M | 16 | 0.6/0.6 | 0.22/0.22 | 12 | 14 | – | 15 | — | T/T | — | p.(Q392*) | p.(G674R) |
| A4831 | M | 6 | 0.4/0.5 | 0.4/0.3 | — | 5 | 5 | — | 6 | G/B | BI, #BPD (7y) | p.(P475L) | p.(W666*) |
| A3742 | M | 28 | 1.0/0.4 | 0/0.4 | — | 21 | — | 21(LF) | — | G/RG | OS: RAPD(+) | p.(R859P) | — |
B, blue; BI, balance impairment; BPD, bipolar disorder; D, deafness; F, female; FI, fecal incontinence G, green; LF, low frequency; M, male; MD, memory deterioration; NA, not available; OD, right eye; od, olfactory decline; OS, left eye; R, red; RAPD, relative afferent pupillary defect; T, total; TOF, tetralogy of Fallot; Y, yellow. —, absent; #, new symptoms occurred during telephone follow-up.