Table 1

Affected members of family A

Visual acuity
NoSexAgeAge of onsetRELEFunduscopyFluorescein angiographyDiagnosis
III-9F65400.5CFAtrophy 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-10F6543CF0.16Atrophy 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-13F63600.50.5The 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-1F47No symptoms1.00.8Small 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-2F46No symptoms1.00.8Some 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-3M45No symptoms1.251.0Very 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-4M44No symptoms1.01.0Discrete 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-5M40No symptoms1.251.25Very discrete perifoveal mottling at the level of the RPE.Discrete hyperfluorescent lesions perifoveally.Probably early CACD
IV-6M37No symptoms1.01.0No abnormalities.No abnormalities.No funduscopic indication of CACD
IV-8M42No symptoms0.80.8Drusen 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-10F40No symptoms1.01.0Irregular 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-11M39350.80.8Irregular 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-12M38No symptoms1.251.25Mild RPE changes in a granular pattern surrounding the fovea. Early stages of III-8, 10, and 11. Some drusenVery mild focal hyperfluorescence corresponding with the RPE changes seen on funduscopy.Early CACD with drusen