Table 2 Clinical features of patients in whom both mutated alleles were detected.
| Family | Mutations | Sensorineural hearing loss | Onset of night blindness | Onset of visual field loss | Visual field | Visual acuity | Eye fundus | ERG | Cataracts |
|---|---|---|---|---|---|---|---|---|---|
| FRP13 | 2299delG/C3267R | Moderate, progressive | 16 | 16 | Marked concentric loss | RE: 0.4; LE: 0.2 | 1 | No response | BE |
| Moderate, progressive | 16 | 16 | Marked concentric loss | RE: 0.15; LE: 0.1 | 1 | No response | BE | ||
| FRP7 | 2299delG/11234dupA | Mild, progressive | 22 | 25 | Marked concentric loss | RE: 0.8; LE: 1 | 1 | No response | BE |
| Moderate, progressive | 11 | 16 | 2 | No response | BE | ||||
| RP504 | C759F/6238delA | Slight | 26 | 30 | Marked concentric loss | RE: 0.08; LE: 0.2 | 2 | No response | LE |
| FRP35 | 2299delG/P4818L | Moderate | 14 | 20 | Concentric loss, −10° | RE: 0.8; LE: 1 | 1 | No response | BE |
| FRP37 | 239_240insGTAC/10272_10273dupTT | Slight, progressive | 20 | 20 | Marked concentric loss | 1 | No response | LE | |
| Slight, progressive | 14 | 14 | Marked concentric loss | 1 | No response | BE | |||
| Slight, progressive | 17 | 20 | Marked concentric loss | 1 | No response | BE | |||
| FRP291 | 2299delG/14110_14111insA | Moderate | 10 | Marked concentric loss | RE: 0.8; LE: 1 | 1 | No response | BE | |
| FRP292 | 2299delG/A2249D | Moderate, progressive | 20 | Concentric loss, −5° | 1 | No response | BE | ||
| FRP293 | 2299delG/T3571M | Moderate | 10 | Marked concentric loss | RE: 1/3; LE: 1/2 | 1 | BE | ||
| FRP60 | 2299delG/C3251R | Moderate/severe | 20 | 25 | Slight concentric loss | RE: 0.9; LE: 0.9 | 1 | Iregular response | |
| FRP54 | T4337M (homozygotic) | Moderate/severe | 27 | 27 | Concentric loss,−10° | <0.1 | 1 | No response | No |
| FRP186 | G713R/Y3472dup/IVS26+1C→G | Slight | 18 | 17 | Marked concentric loss | 1 | No response | No | |
| FRP220 | 2299delG/T3571M | Mild | 13 | 13 | Marked concentric loss | RE: 0.5; LE: 0.5 | 1 | No response | BE |
| FRP229 | D778Y/R2354H | Moderate/severe | 20 | 22 | Marked concentric loss | RE: 0.6; LE: 0.8 | 1 | Altered | No |
| FRP232 | C759F//8435_8438delCCTA | Moderate | 30 | 33 | Marked concentric loss | 1 | No response | No |
BE, both eyes; ERG, electroretinography; LE, left eye; RE, right eye.
Reference sequence for the USH2A gene AY481573.
Eye fundus: (1) Bone spicules deposits, attenuation of vessels and waxy pallor of the optic nerve head; (2) 1+ macular affectation.
Onset of night blindness and visual‐field loss are expressed in years.