IN-VIVO FUNDUS AUTOFLUORESCENCE IN MACULAR DYSTROPHIES

Objective: To document the deviation from normal of fundus autofluores cence in patients with inherited macular dystrophies. Methods: The int ensity and spatial distribution of fundus autofluorescence was documen ted in 118 patients with inherited macular dystrophies by means of a c onfocal laser scanning ophthalmoscope, and the images were compared wi th the fundus appearance and fluorescein angiograms. Results: Backgrou nd autofluorescence appears to be elevated in all forms of macular dys trophies examined. The pale deposits at the level of the retinal pigme nt epithelium in disorders such as Best disease, adult vitelliform mac ular dystrophy, and fundus flavimaculatus were consistently associated with higher levels of autofluorescence than the background signal. Th ere was no strong correlation between the intensity of autofluorescenc e and the fluorescein angiographic sign of a dark choroid. Increased l evels of autofluorescence were present in a subject with a mutation kn own to cause macular dystrophy but in whom there were no manifest opht halmoscopic or functional abnormalities. Conclusions: All dystrophies examined have in common accumulation of autofluorescent material in th e retinal pigment epithelium to a greater degree than that seen with a ge. The abnormal high background autofluorescence associated with inhe rited macular dystrophies confirms the impression derived from histolo gical studies that these disorders affect the entire retinal pigment e pithelium. The lack of correlation between autofluorescence and the pr esence of a dark choroid implies that there may be different fluoropho res in different disorders. The pale deposits at the level of the reti nal pigment epithelium-Bruch membrane seen in macular dystrophies have similar autofluorescence characteristics. This technique may be usefu l in detecting the abnormal phenotype in early disease.