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