Table 1.
Clinical and genetic characteristics of USH2A patients exhibiting double hyperautofluorescent rings.
| ID | USH2A Alleles | Sex | Age (Years) | Onset (Years) | BCVA; R, L | ERG | Hearing Loss # (dB); R, L (Age) |
|---|---|---|---|---|---|---|---|
| 1 | p.Trp3955Ter, p.Arg303His | M | 42 | 18 | 1.0, 1.0 | rod-cone dystrophy | 56, 45 (41) |
| 2 | p.Cys870Ter, p.Arg303His | F | 52 | 22 | 0.8, 0.9 | rod-cone dystrophy | 34, 36 (46) |
| 3 | p.Trp3955Ter, p.Gly4032Arg | F | 61 | 58 | 1.0, 1.0 | cone-rod dystrophy | 31, 40 (65) |
BCVA = best corrected visual acuity, R = right, L = left, # = average hearing loss across the 500, 1000, 2000 and 4000 Hz (Normal = < 20 dB).