Table 1 of
Kousal, Mol Vis 2014; 20:1307-1317. Table 1 of
Kousal, Mol Vis 2014; 20:1307-1317.
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 | ||||