Table 3.
Clinical characteristics of the USH2A patients
| Patient | Mutation | Age at First Visit (y)/Gender | Hearing impairment | Eye | Visual acuity | Refraction | Kinetic visual field extent (V-4e)a | Electroretinograms
|
|
|---|---|---|---|---|---|---|---|---|---|
| Rod b-Wave Amplitude | Cone Flicker Amplitude | ||||||||
| P1 | R303H/W3955X | 44/F | NA | RE | 20/20 | −3.75+0.50×041 | 64 | Not detectable | Not detectable |
| LE | 20/40 | −2.00 | 39 | ||||||
| P2 | W4175C/W2994X | 46/F | Moderate/Severe | RE | 20/60 | Plano | <1 | NP | NP |
| LE | 20/100 | Pseudophakia | <1 | ||||||
| P3 | 3187-8delCA/E2288X/E2288X | 42/M | NA | RE | 20/60 | −2.50+3.50×090 | 18 | Not detectable | Not detectable |
| LE | 20/50 | −2.25+3.50×090 | 20 | ||||||
| P4 | I5126T/+ | 41/M | NA | RE | 20/60 | −6.00+0.50×090 | 3 | Not detectable | Not detectable |
| LE | 20/50 | −6.25+0.50×090 | 6 | ||||||
| P5b | E767fs/+ | 56/F | NA | RE | 20/30 | −0.75+0.50×85 | 1 | NP | NP |
| LE | 20/40 | −0.50 | 1 | ||||||
| P6b | E767fs/+ | 44/M | Moderate/Severe | RE | 20/40 | −2.50+1.00×105 | <1 | NP | NP |
| LE | 20/50 | −4.00+2.50×105 | <1 | ||||||
| P7 | Y1838X/+ | 31/M | Moderate/Severe | RE | 20/30 | −2.00+1.00×090 | 10 | NP | NP |
| LE | 20/200 | −9.25+4.25×010 | 9 | ||||||
| P8 | Q3959fs/+ | 15/M | Moderate/Severe | RE | 20/20 | −1.75+1.75×097 | 100 | Not detectable | Reduced |
| LE | 20/20 | −1.50+1.25×086 | 88 | ||||||
| P9b | E767fs/+ | 38/F | Moderate/Severe | RE | 20/25 | −0.50 | 62 | Not detectable | Not detectable |
| LE | 20/25 | −0.50 | 61 | ||||||
| P10 | W2994X/+ | 38/F | NA | RE | 20/30 | −1.00 | 7 | Not detectable | Not detectable |
| LE | 20/25 | −0.75+0.75×093 | 6 | ||||||
| P11b | E767fs/E767fs | 17/F | Moderate/Severe | RE | 20/20 | −0.50 | 93 | Normal | Normal |
| LE | 20/20 | Plano | 93 | ||||||
| P12b | E767fs/E767fs | 17/F | Moderate/Severe | RE | 20/20 | −0.25+0.75×105 | 96 | Not detectable | Reduced |
| LE | 20/20 | −0.25+0.75×090 | 100 | ||||||
Abbreviations: LE, left eye; NP, not performed; RE, right eye.
a
Expressed as a percentage of the normal mean for the V-4e target; 2 s.d. below the mean is 90% (Jacobson et al.50).
b
Patients with some data previously reported in Schwartz et al.