Table 1 of Vaclavik, Mol Vis 2010; 16:467-475.


Table 1. Summary of clinical findings in affected patients with autosomal dominant retinitis pigmentosa (ADRP) due to T494M mutation in gene PRPF3.

Patient Sex Age (last visit) Mutation T494M Age of onset night blind VA decimal Refraction Visual field Goldman I/4e Cataract Fundus/AF/ others
III.3 F 67 + 7 years OD: 0.3 OS: 0.4 myopia OD:9° OS:10° Bilateral cataract operation Optic nerve palor, migration of pigment in mid periphery
IV.3 M 45 + 2 years OD: 0.6 OS: 0.6 −8/-2x176°
−8/-2x163 OD:7° OS:5° Subcapsular cataract since 25 years AF: ring of high density autofluorescence
IV.4 M 27 + 2–3 years OD: 0.4 OS: 0.3 −4.25/-3x173°-4.75/-3.2x170°
absent migration of retinal pigment epithelium in mid periphery
V.3 F 4 Not tested 3 years OD: 0.8 OS: 0.8 hyperopic astigmatism
absent AF: large hyperfluorescent Rings in both maculas. Pale appearance fundus
III.8 M 53 + 7 years OD: 0.4 OS: 0.1 myopia
Bilateral cat op aged 43 years Optic nerve palor
IV.6 F 39 + 15 years OD: 0.9 OS: 0.8 −7/-3.5x0°-7.75/-2.5x0° OD:8°
OS:10° Bilateral cat op aged 38 years Previous buckling for bilateral retinal detach.
V.10 F 10 Not tested not reported OD: 0.9 OS: 1.0 −0.5/-1x37°-1.75/-0.5x144° OD:30° OS:30° absent AF: large hyperfluorescent rings in both maculas. Normal appearance fundus
III.9 F 71 + 17–18 years OD: 0.8 OS: 0.6 −8/-0.5x180°-4/-1.5x105 OD:5° OS:7° Bilateral cat op aged 60 years AF: ring of high density autofluorescence
IV.9 F 46 + 15 years OD: 1.0 OS: 1.0 −5.25/-2.25x74°-4.25/-1x80° OD:14° OS:12° absent AF: ring of high density autofluorescence. No obvious pigment deposits.
V.11 M 22 + 7 years OD: 1.0 OS: 1.0 −0.75/-0.5x15°+0.75/-1.5x155 OD:30° OS:30° absent AF: ring of high density autofluorescence
III.13 M 59 + 20 years OD: 0.5 OS: 0.8 −7/-2x10°-5.5/-1.5x155
Bilateral cat op aged 49 years optic neuritis aged 20 years