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Fundus Auto-fluorescence in Hereditary Pigmented Paravenous Retinochoroidal Atrophy (PPRCA) and Cone Dystrophy

Fuchs H., Weimar P., Taufenbach D., Holz F. G.,
Ruprecht-Karls-Universität Heidelberg, Universitäts-Augenklinik (Heidelberg)

Background: Digital fundus autofluoreszence (AF) imaging allows visualization of topographic retinal pigment epithelium (RPE) changes in vivo over and above conventional examination techniques. We present AF-findings in two rare hereditary retinal degenerations.
Methods: Digital AF-images were obtained with a confocal scanning laser ophthalmoscope (exc 488 nm, em >500 nm, HRA, Heidelberg Engineering). Mean images were calculated from 9 single frames after automated alignement. Further characterization of the phenotype included electrophysiological tests (ERG, mfERG, EOG) and visual fields.
Results: A 23-years old patient with a positive family history showed symmetric paravenous retinal changes typical for PPRCA sparing the macula. Over a review period of 6 years a gradual progression of the outer retinal retinal atrophy was noted. While angiographically visible changes corresponded with funduscopic findings, there were continuous discrete lines of increased AF beyond both sides of paravenuous atrophy in funduscopically unconspicuous retina. AF-images in a 32-years old female with cone dystrophy showed a well-defined ring of elevated AF surrounding the macula, again without any visible signs on funduscopy.
Conclusions: AF-imaging is helpful in the differential diagnosis of PPRCA, since non-hereditary, e.g. inflammatory causes do not show similar AF changes. Spectral analyses by Delori et. al. identified lipofuscin fluorophores as the origin of the fundus AF in vivo. The phenomena reported herein are therefore thought to reflect zones of excessive RPE-lipofuscin accumulations, which, in turn, may represent areas of increased disk-shedding rates and of incipient atrophy (Holz et al. IOVS 2001). Further longitudinal examinations will elucidate the prognostic relevance of these findings.

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