Table 1.
Prevalence of RP and XLRP
| Location | RP | XLRP | Gene |
|---|---|---|---|
| US | 1 in 370011 | ● ~6–16% of RP cases11,13 ● 22.5% XLRP among survey respondents with RP17 |
– |
| France | – | – | ● RP2 15.9% of families with XLRP ● RPGR 78.4% of families with XLRP15 |
| Germany | – | – | ● RP2 8% of families with XLRP ● RPGR 71% of families with XLRP14 |
| Spain | 1 in 835718 | 4% of RP cases18 | – |
| UK | 1 in 486919 | ● 15.7% RP families20 (32.6% among individuals in this study) ● 21.5% RP families21 |
– |
| Japan | – | 1.8% of RP cases12a | A small-scale study attributed a similar proportion of cases of XLRP to RP2 and RPGR mutations in a study of 13 males with XLRP and 15 female carriers from 12 families4 |
Notes: aPrevalence estimate has been derived from a study of 329 Japanese patients with RP who visited the Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Abbreviations: RP, retinitis pigmentosa; RP2, retinitis pigmentosa 2; RPGR, retinitis pigmentosa GTPase regulator; XLRP, X-linked retinitis pigmentosa.