Table 1.
Affected members of family A
| Visual acuity | ||||||||
| No | Sex | Age | Age of onset | RE | LE | Funduscopy | Fluorescein angiography | Diagnosis |
| III-9 | F | 65 | 40 | 0.5 | CF | Atrophy of the RPE in the posterior pole. Numerous drusen in this region, centrally the drusen are larger. | Circumscribed hyperfluorescence in the posterior pole and relative hypofluorescence at the foveal region. | CACD with drusen |
| III-10 | F | 65 | 43 | CF | 0.16 | Atrophy of the RPE in the posterior pole. Fewer drusen compared with her twin sister II-10, the more centrally located drusen are larger. | Circumscribed hyperfluorescence in the posterior pole and relative hypofluorescence at the foveal region. | CACD with drusen |
| III-13 | F | 63 | 60 | 0.5 | 0.5 | The area of atrophy of the RPE is smaller compared with II-10 and II-11. Only a few drusen. | Circumscribed hyperfluorescence in the posterior pole and relative hypofluorescence at the foveal region. | CACD with drusen |
| IV-1 | F | 47 | No symptoms | 1.0 | 0.8 | Small yellow grey spots at the macula, one in the right eye and two in the left eye. No drusen. | Small lesions with a hyperfluorescent rim and hypofluorescent centre. These lesions correspond with the spots observed with funduscopy. | Probably early CACD |
| IV-2 | F | 46 | No symptoms | 1.0 | 0.8 | Some drusen, most noticeable in the right eye. | No abnormalities except two lightly hyperfluorescent spots in het macula of the right eye. | Early CACD with few drusen |
| IV-3 | M | 45 | No symptoms | 1.25 | 1.0 | Very discrete perifoveal mottling at the level of the RPE. | Slight hyperfluorescent lesions perifoveal in both eyes, more obvious with fluorescein angiography compared with funduscopy. | Probably early CACD |
| IV-4 | M | 44 | No symptoms | 1.0 | 1.0 | Discrete perifoveal granular pigmentation at the level of the RPE. Some small drusen. | Hyperfluorescent lesions surrounding the fovea. Comparable with III-3 but more extensive. | Early CACD with drusen |
| IV-5 | M | 40 | No symptoms | 1.25 | 1.25 | Very discrete perifoveal mottling at the level of the RPE. | Discrete hyperfluorescent lesions perifoveally. | Probably early CACD |
| IV-6 | M | 37 | No symptoms | 1.0 | 1.0 | No abnormalities. | No abnormalities. | No funduscopic indication of CACD |
| IV-8 | M | 42 | No symptoms | 0.8 | 0.8 | Drusen and irregular atrophy of the RPE in the macular area. | Early and irregular hyperfluorescence in the early phases of the fluorescein angiogram corresponding with the area of atrophy described on funduscopy. No leakage in later phases. | CACD with drusen |
| IV-10 | F | 40 | No symptoms | 1.0 | 1.0 | Irregular atrophy of the RPE in de macular area. Some small drusen. | Early and irregular hyperfluorescence in the early phases of the fluorescein angiogram corresponding with the area of atrophy described on funduscopy. No leakage in later phases. | CACD with drusen |
| IV-11 | M | 39 | 35 | 0.8 | 0.8 | Irregular atrophy of the RPE surrounding the fovea. A few small drusen. | Early and irregular hyperfluorescence in the early phases of the fluorescein angiogram corresponding with the area of atrophy described on funduscopy. No leakage in later phases. | Early CACD with drusen |
| IV-12 | M | 38 | No symptoms | 1.25 | 1.25 | Mild RPE changes in a granular pattern surrounding the fovea. Early stages of III-8, 10, and 11. Some drusen | Very mild focal hyperfluorescence corresponding with the RPE changes seen on funduscopy. | Early CACD with drusen |