摘要： PURPOSE. To assess whether carriers of ABCA4 mutations have increased RPE lipofuscin levels based on quantitative fundus auto?uorescence (qAF) and whether spectral-domain optical coherence tomography (SD-OCT) reveals structural abnormalities in this cohort. METHODS. Seventy-?ve individuals who are heterozygous for ABCA4 mutations (mean age, 47.3 years; range, 9–82 years) were recruited as family members of affected patients from 46 unrelated families. For comparison, 57 affected family members with biallelic ABCA4 mutations (mean age, 23.4 years; range, 6–67 years) and two noncarrier siblings were also enrolled. Auto?uorescence images (308, 488-nm excitation) were acquired with a confocal scanning laser ophthalmoscope equipped with an internal ?uorescent reference. The gray levels (GLs) of each image were calibrated to the reference, zero GL, magni?cation, and normative optical media density to yield qAF. Horizontal SD-OCT scans through the fovea were obtained and the thicknesses of the outer retinal layers were measured. RESULTS. In 60 of 65 carriers of ABCA4 mutations (age range, 9–60), qAF levels were within normal limits (95% con?dence level) observed for healthy noncarrier subjects, while qAF levels of affected family members were signi?cantly increased. Perifoveal ?eck-like abnormalities were observed in fundus AF images in four carriers, and corresponding changes were detected in the outer retinal layers in SD-OCT scans. Thicknesses of the outer retinal layers were within the normal range. CONCLUSIONS. With few exceptions, individuals heterozygous for ABCA4 mutations and between the ages of 9 and 60 years do not present with elevated qAF. In a small number of carriers, perifoveal ?eck-like changes were visible.