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K. Fujinami, M. Michaelides, A. R. Webster, A. T. Moore, A. G. Robson, G. E. Holder; A Longitudinal Study of the Electroretinogram Responses in Stargardt-Fundus Flavimaculatus. Invest. Ophthalmol. Vis. Sci. 2010;51(13):3272.
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To investigate the progression in Stargardt-fundus flavimaculatus (S-FFM).
A longitudinal study of 31 patients with S-FFM was undertaken. The mean age of our patients at the initial examination was 28.8 years old (11-50) with a mean follow-up interval of 9.3 years (5-11). Electrophysiological tests, including pattern, focal and full-field electroretinogram (ERG) were performed, as was a clinical ophthalmic examination and fundus autofluorescence imaging. The classification which we previously reported was used for assessment; group 1: dysfunction confined to the macula; group 2: macular and generalized cone dysfunction; group 3: macular, generalized cone and generalized rod dysfunction. At the initial examination, there were 13 patients in group 1, 8 patients in group 2, and 10 patients in group 3. Analysis of the ATP-binding cassette transporter gene (ABCA4) was performed in the majority of the cohort.
Three of 13 patients from group 1 progressed to group 2, and one patient to group 3, during the course of the study. Five of 8 patients of group 2 progressed to group 3. Of 31 patients, seven had mild, 12 had significant deterioration in ERG. Electrophysiological progression occurred in 22% of group 1, 62.5% of group 2, and 100% of group 3.
In some cases, generalized cone and rod dysfunction can follow restricted macular dysfunction or generalized cone dysfunction. Most cases in group 1 did not progress to generalized dysfunction. The presence of rod involvement always associated with progressive disease. Electrophysiological monitoring helps define the phenotype in S-FFM and assists counseling.
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