Clinical characteristics and visual function tests with retinal tomographic correlation in patients with Stargardt's disease in Taiwan.

Background/purpose: Stargardt's disease is the most common form of juvenile macular dystrophy. The purpose of this study is to report the clinical characteristics, visual function, and retinal tomography of patients diagnosed with Stargardt's disease in Taiwan.

Methods: Retrospective case series; data collected include results of complete ophthalmic examinations: best-corrected visual acuity (BCVA), slit-lamp biomicroscopy, indirect ophthalmoscopy, fundus photography, fluorescein angiography, color sense discrimination test, electroculography (EOG), electroretinography (ERG), dark adaptation, visual field test, and optical coherence tomography (OCT) examinations focused on the macular area.

Results: Twenty patients were enrolled in this study. The mean age of the patients was 32.1 years. The mean logMAR-converted visual acuity of all patients was 0.96. Maculopathy with or without flecks was evident in all patients. Fluorescein angiography revealed hyperfluorescence in the macula of all cases. Varying degrees of color sense discrimination dysfunction were noted. Electrophysiologic studies showed subnormal to abnormal responses in most patients. Decreased foveal thickness was evident on OCT and foveal thickness was inversely associated with logMAR visual acuity. Also, logMAR visual acuity was associated with total error scores on the color sense discrimination test and the Arden ratio of EOG. The Arden ratio of EOG correlated with the thickness of the outer ring of the macula.

Conclusion: Typical clinical presentations of Stargardt's disease were demonstrated in our case series. OCT findings showed a correlation between foveal thickness and visual acuity, making OCT a useful predictor for other visual function tests. Our results indicate that OCT is helpful in the evaluation of visual acuity and the progression of maculopathy in patients with Stargardt's disease.