| Gene | # unrelated patients surveyed | # with mutation | Percentage of all RP* |
| RHO (rhodopsin) (1-4) | 363 with ADRP and
126 with ARRP |
90 (25%)
1 (1%) |
10.0%
0.4 |
| RDS (RDS/peripherin) (5) | 135 with ADRP and
92 with ARRP |
8 (3.5%) (combines ADRP + ARRP + digenic RP) | 3.2 |
| ROM1 (5) (digenic RP with RDS) | 173 with ADRP and
142 with ARRP |
4 (1.3%) (combines ADRP + ARRP + digenic RP) | 0 (overlap with RDS) |
| NRL (neural retina leucine zipper transcription factor) (6) | 189 with ADRP | 4 (2.0%) | 0.8 |
| RP1 (7) | 241 with ADRP | 17 (5.6%)** | 2.2 |
| PDE6A (alpha subunit of rod cGMP-phosphodiesterase) (8) | 164 with ARRP | 6 (3-4%) | 1.8 |
| PDE6B (beta subunit of rod cGMP-phosphodiesterase) (9) | 92 with ARRP | 4 (4%) | 2.2 |
| CNGA1 (alpha subunit of the rod cGMP-gated cation channel) (17) | 173 with ARRP
94 with ADRP |
3 (1.7%)
0 (0%) |
0.9 |
| RPE65 (10) | 162 with ARRP
45 with LCA |
3 (1.9%)
7 (16%)*** |
0.9 |
| RGR (11) | 182 with ARRP | 1 (0.5%) | 0.3 |
| RPGRIP (12) | 57 with LCA | 3 (5%)*** | |
| MYO7A (13) | 66 with Ush1 | 19 (29%) | 2.9 |
| CRX (14) | 36 with ARRP
55 with LCA |
1 (3%)
2 (4%)*** |
1.0 |
| NR2E3 (19) (submitted for publication) | 19 with clumped pigment RP | 8 (42%) | 0.2 |
| RPGR (15) and unpublished results | 140 with XLRP | 93 (66%) | 6.6 |
| RP2 (15) and unpublished results | 140 with XLRP | 9 (6.6%) | 0.6 |
Total percent of RP cases with mutations in genes already screened: 34%
Notes to table:
Many recently identified RP genes have not yet
been screened.
*To calculate the percentage of all RP caused
by each gene, we assumed the following breakdown of RP cases:
ADRP (autosomal dominant RP) = 40%
ARRP (autosomal recessive RP) = 35%
Syndromic ARRP: Usher = 10%, Bardet-Biedl = 5%
XLRP (X-linked RP) = 10%.
** Some of the percentages have been corrected
for the fact that patients with known mutations were excluded from the
analysis of some genes.
***Patients with LCA (Leber congenital amaurosis)
are not included in the calculation of percentages of RP cases with known
primary gene defects, since most studies of the prevalence of RP do not
count this disease as a form of RP.
****Patients with clumped pigmentary retinal
degeneration are estimated to account for 0.5% of RP cases.16
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