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Stargardt's Disease - correlation of Clinical Apperance, Fluorescein Angiography and Electrophysiological Results

1Bernardczyk-Meller J., 1Siennicka A., 1Manys-Kubacka K., 2Krawczynski M. R.,
1K. Marcinkowski University of Medical Sciences Poznan, Department of Ophthalmology (Poznan)
2K. Marcinkowski University of Medical Sciences Poznan, Department of Medical Genetics (Poznan)

Objective: The aim of the study was retrospective analisis of results of clinical examinations and other diagnostical investigations in patients with Stargardt's disease.
Material: 36 patients, 24 women and 12 men, aged between 7 and 40 years, (mean age 17,8)
Method: the full ophthalmological examination, specially with exact examination of the retina, PVEP and standard flash ERG, fluorescein angiography ang genetic counselling were perforemed in our patients.
Results: The beginning of the disease was between the age of 7 and 22 years Mean visual acuity was 5/50. The fundus apperance was typical in clinical examination in most cases. In 2 cases the appearance simulating retinitis pigmentosa. In fluorescein angiography 50% of patients had pathological hyperfluorescence and "dark choroid' only in the posterior pole, the others more diffuse lesions also at the periphery of the fundus. The electophysiological results of PVEP correlated mostly with central visual acuity. In ERG results we noticed in 5 patients very poor retinal function, in 14 patients normal results of ERG and in 12 patients moderate lowering of amplitude. In 7 cases we observed progression of pathological results of ERG during 4 years follow-up. Majority of cases were sporadic with autosomal recessive inheritance. Only one family presented rare vertical transmission with possible autosomal dominant inheritance.
Conclusions: 1. Stargardt's disease is a condition with heterogenous clinical appearance. The appearance of the fundus, the decrease in visual acuity and results of diagnostical investigation such elctrophysiology or fluorescein angiography are not always parallel one another; 2. Diagnostical investigations such electrophysiology and fluorescein angiography allow quantitative evaluation of the extent of retinal disease; 3. Reduced results of electrophysiological investigations correlate with poor visual acuity, but not always with diffuse pathological lesions in fluorescein angiography and seem to be severe for longterm prognosis.