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