Baseline characteristics of cohort
Characteristics | Number or % |
Age, years (SD) | 47.1 (±18.4) |
Male (%) | 46.8% |
Autosomal dominant (%) | 42 (24.9%) |
RP1 | 11 |
RHO | 6 |
PRPF31 | 3 |
RP11 | 3 |
PRPF8 | 2 |
RDS | 2 |
RP9 | 1 |
Unknown/not tested | 14 |
Autosomal recessive/sporadic (%) | 112 (66.3%) |
USH2A | 10 |
MYO7A | 3 |
USH1C | 2 |
CRB1 | 2 |
Unknown/not tested | 95 |
X linked (%) | 8 (4.7%) |
RPGR | 6 |
Unknown/not tested | 2 |
Unclear inheritance | 7 (4.1%) |
Autosomal dominant, autosomal recessive and X linked were determined clinically, with molecular confirmation in some patients.