Table 2

Affected members of family B

Visual acuity
NoSexAgeAge of onsetRELEFunduscopyFluorescein angiographyDiagnosis
III-4F6152CF0.1Severe atrophy of the retinal pigment epithelium. A few drusen, most noticeable in the right eyeHyperfluorescence in the posterior pole. Choroidal vessels are visible in the early phasesCACD with drusen
III-6M5643CFCFCentral atrophy of the retinal pigment epithelium, no drusenHyperfluorescence early in the macular areaCACD
III-8M51380.80.6Atrophy of the pigment epithelium in the posterior pole. Numerous drusenCentral hyperfluorescence. Area of relative hypofluorescence in the early phase of the angiogram in the left eyeCACD with drusen
III-11F56530.60.6Mild atrophy of the retinal pigment epithelium. Numerous drusenMarked hyperfluorescence in the posterior pole. Local areas with hypofluorescenceCACD with drusen