Table 2
Summary of clinical findings
| Patient | Sex | Age | Visual acuityRE-LE | Age of onset | Fundus | AF imaging | ERG | PERG | Colour vision |
|---|---|---|---|---|---|---|---|---|---|
| BEM, bull’s eye maculopathy; IV:2 was asymptomatic; ERG, electro-retinography; PERG, pattern ERG. | |||||||||
| II:2 | F | 81 | 6/60–6/60 | 20 | Bilateral symmetrical macular atrophy and attenuated retinal vessels (fig 2E) | Bilateral decreased AF corresponding to atrophy seen on ophthalmoscopy with a surrounding ring of relative increased AF | Reduced cone and rod responses | Absent | Bilateral medium protan, deutan and tritan defects |
| II:5 | F | 68 | 3/36–3/60 | 33 | Bilateral macular atrophy; attenuated retinal vessels and peripheral areas of atrophy (fig 4) | Bilateral decreased AF corresponding to atrophy seen on ophthalmoscopy with a surrounding ring of relative increased AF | Markedly reduced cone and absent rod responses | Absent | Bilateral medium protan, deutan and tritan defects |
| II:7 | F | 75 | 6/9–6/9 | 41 | Bilateral “bull’s eye maculopathy” | Concentric rings of increased and decreased AF | Borderline reduced maximal responses | Reduced | Bilateral mild protan, deutan and tritan defects |
| III:1 | M | 52 | 6/36–6/36 | 30 | Bilateral macular RPE changes with areas of atrophy and pigmentation; attenuated retinal vessels with peripheral areas of atrophy (fig 4) | Bilateral decreased AF centrally with a surrounding ring of relative increased AF | Cone responses more markedly reduced than rod | Absent | Bilateral mild protan, deutan and tritan defects |
| III:2 | M | 48 | 6/9–6/9 | 42 | RE: RPE changes | RE: Concentric rings of increased and decreased AF | Borderline reduction | Absent | Bilateral mild protan, deutan and tritan defects |
| LE: Well defined area of macular atrophy (fig 2A) | LE : Decreased AF corresponding to atrophy seen on ophthalmoscopy with surrounding ring of relative increased AF (fig 2B) | ||||||||
| III:6 | F | 53 | 3/60–6/60 | 19 | Extensive RPE atrophy and areas of pigmentation RE > LE; and attenuated retinal vessels | Bilateral decreased AF centrally with a surrounding ring of relative increased AF | Cone responses more markedly reduced than rod | Absent | Bilateral medium protan, deutan and tritan defects |
| IV:2 | F | 18 | 6/6–6/6 | – | Bilateral mild macular RPE changes | Bilateral perifoveal rings of relative increased AF (fig 5) | Borderline reduction | Reduced | N |
| IV:3 | M | 31 | 6/18–3/60 | 14 | Extensive RPE atrophy and areas of pigmentation LE > RE (fig 2C) | Bilateral decreased AF centrally with a surrounding ring of relative increased AF (fig 2D) | Markedly reduced cone and rod responses | Absent | Bilateral mild protan, deutan and tritan defects |
