Table 2 of Rizel, Mol Vis 2011; 17:3548-3555.

Table 2. Clinical data of individuals with USH1.

Family Gene and mutation Patient ID and sex Age Vision Hearing Additional findings
        Age at diagnosis of vision impairment Visual acuity (best corrected) FFERG* Visual field Funduscopic findings    
            LA (single flash) DA        
TB-86 USH1C c.497–2delA II-1
F 30 y 10 y R 6/15
   6/18		 NR NR R <10°   <10° Typical retinal bone-spicule pigmentation in mid periphery Congenital, bilateral profound SNHL  
    II-2
M 26 y 10 y R 6/90
   6/60		 NR NR R <10° 10°–20° Typical retinal bone-spicule pigmentation in mid periphery Congenital, bilateral profound SNHL  
    II-3
M 25 y 10 y ND NR NR ND ND Congenital, bilateral profound SNHL  
TB-114 MYO7A c.700C>T; p.Q234X II-1
F 8 y 8 y ND ND ND ND Typical retinal bone-spicule pigmentation Congenital, bilateral profound SNHL Increased feet tonus and hyperflexia
    II-3
M 8 m NE†           Congenital, bilateral profound SNHL  
TB-63 MYO7A c.1135–1147dup; p.S383WfsX63 II-1
M 28 y 9 y ND ND ND ND Typical retinal bone-spicule pigmentation Congenital, bilateral profound SNHL Developmental delay
    II-3
F 11 y 9 y ND ND ND ND Typical retinal bone-spicule pigmentation Congenital, bilateral profound SNHL  
    III-1
M 1 y NE†           Congenital, bilateral severe SNHL  
TB-109 USH1G c.206–207insC; p.L69PfsX66 II-1 8 y 3 y R 6/10
   6/10		 ND ND ND Salt and pepper-like degeneration with mild vascular attenuation, a reduced foveal reflex, and normal optic disks. Congenital, bilateral severe SNHL Hypotonia, developmental delay, myopia, astigmatism
    II-2 6 y 5 y R 6/12
    6/12		 ND ND ND Salt and pepper-like degeneration with mild vascular attenuation, a reduced foveal reflex, and normal optic disks. Congenital, bilateral severe SNHL Situs inversus, myopia, astigmatism

F, Female; M, Male; y, years; m, months; R, Right eye; L, Left eye; NR, Non-Recordable; ND, Not Done; SNHL, sensorineural hearing loss *FFERG, Full Field Electroretinogram; LA, Light Adaptation: Normal amplitude 80–180 μV; Normal latency 30–35 ms; DA, Dark Adaptation: Normal a-wave 100–200 μV; Normal b-wave 400–550 μV †NE, Not further examined regarding RP.

Rizel, Mol Vis 2011; 17:3548-3555. http://www.molvis.org/molvis/v17/a381

©2011 Molecular Vision http://www.molvis.org/molvis/

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