Table 2 of
Jaijo, Mol Vis 2012; 18:1719-1726. Table 2 of
Jaijo, Mol Vis 2012; 18:1719-1726.
Table 2. Segregation analysis and clinical information of Spanish patients in whom pathogenic PCDH15 mutations have been detected.
Patient |
Paternal allele |
Maternal allele |
Sensorineural hearing loss |
Vestibular function |
Age at diagnosis of RP |
Visual field |
Visual acuity |
Fundus appearance |
|---|---|---|---|---|---|---|---|---|
| RP-219 | c.3717+2dupT | c.3717+2dupT | Congenital, profound, stable | vestibular dysfunction | 2 | Concentric loss <10° (17 years) | 0,3 / 0,15 (17 years) | Typical RP |
| RP-367 | c.158–52781_475–3295dup | p.R134Q | Congenital, profound, stable | vestibular dysfunction | 8 | Concentric loss 10° (12 years) | 0,7 / 0,8 (12 years) | Typical RP + macular involvement |
| RP-576M | p.K928X | p.K928X | Congenital, profound, stable | ND | 22 | ND | 0,8 / 0,7 (23 years) | Typical RP + macular involvement |
| RP-982 | c.158–52781_475–3295dup | c.158–52781_475–3295dup | Congenital, profound, stable | vestibular dysfunction | 7–8 | Concentric loss. 10° (32 years) | 0,6 /0,6 (32 years) | Typical RP |
| RP-1034 | c.92–13779_157+41368del | p.R245X | Congenital, profound, stable | vestibular dysfunction | 9 | Concentric loss. 5° (15 years) | 0,7 /0,7 (13 years) | Typical RP |
| RP-1286 | c.1304_1305insC | + | Congenital, profound, stable | ND | 9 | Concentric loss (36 years) | ND | ND |
| RP-1323 | c.2868+5G>A | p.Y579X | Congenital, profound | ND | ND | ND | ND | RP |