Table 1. Serial clinical observations in individuals from a family with retinitis pigmentosa caused by a c.2543del in RPGR ORF15.
| Individual/gender | Age (yrs) |
BCVA |
Subjective refraction (DS/DC) |
Pigmentary deposits |
Color Vision Deficiencies |
Mutation | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| RE | LE | RE | LE | RE | LE | RE | LE | |||
| II:5/F |
67 | LP | HM | −15.0 | −15.0 | Y | Y | Not tested – obligate carrier |
||
| 72 |
TB |
TB |
UA |
UA |
Y |
Y |
||||
| III:1/F |
58 | 0.63 | 0.63 | −6.0/-2.5 | −4.0/-1.5 | Y | Y | Not tested – obligate carrier |
||
| 64 |
0.2 |
0.64 |
−6.0/-2.5 |
−5.0/-1.0 |
Y |
Y |
Moderate tritan |
Mild protan |
||
| III:3/M |
52 |
1.0 |
1.0 |
UA |
UA |
N |
N |
Not found |
||
| III:4/F |
47 | 0.25 | 0.4 | −15.0/-0.25 | −14.0/-0.75 | Y | Y | Present | ||
| 54 | 0.2 | 0.32 | −11.5 | −11.5 | Y | Y | Mild tritan | Mild protan | ||
| 58 |
0.2 |
0.4 |
−11.5 |
−11.5 |
Y |
Y |
||||
| III:6/M |
48 |
0.16 |
0.16 |
−6.5/-1.5 |
−6.0/-1.5 |
Y |
Y |
Not tested |
||
| III:7/F |
53 |
0.5 |
0.63 |
−11.0/-1.25 |
−8.0/-2.0 |
N |
N |
Not tested |
||
| III:9/F |
44 | 0.04 | 1.0 | −11.0/-2.0 | −4.0/-2.0 | Y | N | Present | ||
| 50 |
0.03 |
1.0 |
−11.0/-2.0 |
−4.5/-2.0 |
Y |
Y |
Impossible to test due to visual impairment |
Mild tritan |
||
| III:11/F |
41 |
1.0 |
1.0 |
None |
None |
N |
N |
Not tested |
||
| IV:1/M |
42 |
0.25 |
0.25 |
−3.0/-2.0 |
−3.0/-2.0 |
Y |
Y |
Severe protan |
Severe protan |
Not tested |
| IV:2/M |
32 | 0.4 | 0.5 | −8.5/-3.5 | −9.0/-1.0 | Y | Y | Present | ||
| 38 |
0.32 |
0.4 |
−9.5/-3.0 |
−9.5/-3.5 |
Y |
Y |
Moderate tritan |
Mild protan |
||
| IV:3/M |
23 | 0.5 | 0.5 | −11.0 | −11.0/-1.0 | Y | Y | Not tested | ||
| 27 | 0.4 | 0.4 | −11.0 | −11.0 | Y | Y | ||||
| 30 |
0.16 |
0.32 |
−11.0 |
−11.0 |
Y |
Y |
Moderate protan |
Severe protan |
||
| IV:4/F |
25 | 1.0 | 1.0 | None | None | N | N | Present | ||
| 29 | 1.0 | 1.0 | None | None | N | N | None | None | ||
| 32 |
1.0 |
1.0 |
None |
None |
N |
N |
||||
| IV:6/M |
14 | 0.8 | 0.8 | −3.25/-1.75 | −2.75/-1.5 | N | N | Not tested | ||
| 19 |
0.8 |
0.8 |
−5.5/-1.0 |
−5.0 |
Y |
Y |
None |
None |
||
| IV:8/F |
22 |
0.32 |
0.32 |
−10.5/-3.5 |
−13.5/-1.75 |
N |
N |
Not tested |
||
| IV:11/F |
25 |
0.63 |
0.5 |
−4.5/-3.0 |
−10.0/-2.5 |
N |
N |
Present |
||
| IV:12/M |
37 |
1.0 |
1.0 |
UA |
UA |
N |
N |
Not found |
||
| IV:15/M |
11 |
1.0 |
1.0 |
None |
None |
N |
N |
Not tested |
||
| V:1/M |
4 | UA | UA | −2.5/-2.5 | −2.5/-2.5 | N | N | Not tested | ||
| 6.5 | 1.0 | 0.5 | −2.5/-2.5 | −2.5/-2.5 | N | N | ||||
| 10 | 0.5 | 0.5 | −3.0/-2.5 | −3.0/-3.0 | N | N | ||||
BCVA: best corrected visual acuity, DS: diopter sphere, DC: diopter cylinder, F: female, HM: hand movement, M: male, LE: left eye, RE: right eye, N: No, Y: yes, yrs: years, TB: total blindness, UA: unavailable data. Color vision was tested using Lanthony 15-Hue Desaturated Test.