Patients with Usher syndrome 3—clinical information
No | Age/ sex | Age diag deafness | Audiogram | Vestibular function | Age diag RP | Age visual symptom | VA | ERG (mV) | Cat | Field (°) | Pigment degen |
2 | 40/M | teens | Progression to corner profound | NP | 36 | 26 | 6/60 | <75 | mild PSLO | mod constriction | RP sine pigmento |
3* | 49/M | 14 | Progression sloping mod/sev | ++ | 40 | 20 | 6/9 | ext | no | 10 | Moderate |
6 | 54/M | 16 | Progressed to profound | NP | 16 | 16 | no PL | ext | no | ext | Extensive |
8* | 52/F | 12 | NR | ++ | 36 | 36 | 6/9 | <75 | early PSLO | 10 | Extensive |
31* | 61/F | 5 | Progression sloping mod/sev | ++ | 21 | 13 | 6/12 | ext | mild PSLO | 10 | Extensive |
34* | 39/F | 2 years | Progression from mod/sev to NR | ++ | 38 | 38 | 6/6 | mild reduction ERG and EOG | no | full | Moderate |
NR = non-recordable; RP = retinitis pigmentosa; NP = not performed; PSLO = posterior sub capsular lens opacities; ext = extinguished; Cat = cataract; diag = diagnosis; pigment degen = pigmentary degeneration; *clinically reassessed.