I:1 | died aged 72 | Bilateral “macula chorioretinitis” | Poor vision | | Yes (40s) | |
II1 | 67 | Both eyes: well demarcated area of chorioretinal atrophy with pigment hypertrophy centred on the macula | 6/18, 6/24 | Declined testing | Yes (50) | Left exotropia, iris heterochromia |
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II3 | 77 | Both eyes: well demarcated area of chorioretinal atrophy with pigment hypertrophy centred on the macula | HM, 6/18 | PERG: normal | Yes (60) | Low myopia |
| | | | EOG: mildly subnormal | | Right squint surgery as child |
| | | | ERG: normal | | |
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III1 | 42 | Right eye: well demarcated area of chorioretinal atrophy with pigment hypertrophy | | Declined testing | Yes (36) | |
| | Left eye: multiple yellow drusen-like deposits at the macula | | | | |
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III3 | 41 | Both eyes: well demarcated area of chorioretinal atrophy with pigment hypertrophy centred on the macula | 6/9, 6/9 | | Yes (20) | Low myopia |
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III5 | died aged 41 | Bilateral macular dystrophy | Not known | | Hearing loss | |
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III:6 | 51 | Multiple yellow drusen-like deposits centred on both maculas | 6/9, 6/9 | PERG: mild reduction | Yes (40s) | Low myopia |
| | | | EOG: normal | | Left squint surgery aged 4 |
| | | | ERG: normal | | |
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III8 | 44 | Multiple yellow drusen-like deposits centred on both maculas | 6/6, 6/6 | Declined testing | No | |
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IV3 | 15 | Multiple yellow drusen-like deposits centred on both maculas | 6/6, 6/6 | ERG: normal | Not detected | Low myopia |
| | | | EOG: mildly subnormal | | Left strabismic amblyopia |
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IV4 | 13 | Multiple yellow drusen-like deposits centred on both maculas | 6/9, 6/24 | ERG: normal | Not detected | |
| | | | EOG: mildly subnormal | | |