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E Wegscheider, B Lorenz, I Bader, T Meitinger, A Meindl; Fundus Autofluorescence in Carriers for RP3 With Known Genotype . Invest. Ophthalmol. Vis. Sci. 2002;43(13):1183.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To describe the fundus autofluorescence in carriers for RP 3 with known genotype. Methods: Six female carriers of one family were included in the study. In addition to a complete clinical examination the following tests were performed: color vision using the Farnsworth-Munsell panel D 15 test, Goldmann kinetic perimetry, Ganzfeld ERG according to ISCEV standard recorded with DTL electrodes on a Nicolet Spirit examination unit, two-color treshhold perimetry in the dark and light adapted state on a modified Humphrey Field Analyzer (HFA), model 640 (by F. Fitzke, Institute of Ophthalmology, London) and autofluorescence using a confocal scanning laser ophthalmoscope (Heidelberg Retina Angiograph). Results: A radial pattern of hyper- and hypofluorescence was present in the posterior pole of all five young carriers (aged 6 - 19), but absent in their grandmother (aged 68). These findings were not correlated with the fundoscopic, electrophysiological or psychophysical results. Conclusion: Fundus autofluorescence had a specific pattern in a high proportion of carriers in one family with RP3. Evaluation of additional carriers with other mutations in the RPGR gene is in progress. If the specific pattern of fundus autofluorescence is a general feature of carriers of RPGR mutations a rapid clinical test would be available to identify carriers for RP3. This would be particularly helpful in young children and would allow gene directed genetic analysis.
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