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 |
Age at diagnosis of RP is showed in years. ND: No data.