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Fundus Autofluorescence in Carriers for RP 3 with Known Genotype

1Wegscheider E., 1Lorenz B., 1Preising M., 2Meitinger T.,
1Universität Regensburg, Klinik und Poliklinik für Augenheilkunde, Abt. für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik (Regensburg)
2Technische Universität München, Institut für Humangenetik (München)

Purpose: To discribe the fundus autofluorescence in carriers for RP 3 with known, yet not published genotype.
Method: Six female carriers of one family were examined. A complete ophthalmological examination was performed including color vision using the Farnsworth-Munsell panel D 15 test, Goldmann kinetic perimetry with 5 targets (V/4e, III/4e, I/3e, I/2e, I/1e), Full-field electroretinogram (ERG) was recorded with DTL electrodes on a Nicolet Spirit examination unit (Nicolet, Madison, WI) following the guidelines of the International Standard for Elecroretinography Goldmann kinetic perimetry, two- color treshhold perimetry was performed under scotopic and photopic condition on a modified Humphrey- Field- Analyzer (HFA), model 640 (by F. Fitzke, Institute of Ophthalmology, London) and autofluorescence using a confocal scanning laser ophthalmoscope (HRA).
Results: A radial pattern of hyper,- and hypofluorescence was present in the posterior pole of all five young carriers (age 6- 19), but not present in the fundus of their grandmother (age 68). These findings are not necessarily correlated with the fundoscopic, electrophysiological or psychophysical results.
Conclusions: Fundus autofluorescence has a specific pattern in a high proportion of carriers for RP 3, and can thus be a rapid clinical test to identify carriers for RP 3 especially in young children. The knowledge of posterior pole autofluorescence for certain genetical disorders in gens coding for Xl- RP could simplify the search for the locus of the defect.
DFG Lo 457/3-3