Facts about stargardt disease: advances and obstacles

Abstract

Introduction: Stargardt disease is the most common juvenile macular dystrophy and hereditary frequent cause of central visual dysfunction in young patients. This disease, whose prevalence is 1:8000, according to other sources 1:10000, was first described in 1909, by Stargardt. According to recent studies, Stargardt disease was the cause of low vision at 13.94% people, aged under 16. Stargardt's disease can occur in one of every 20,000 children, aged equal or greater than 6 years and is usually diagnosed before the age of 20 years.

Materials and methods: The purpose of this article was to highlight the general aspects of Stargardt’s disease and also to present a clinical case of a boy aged 6, who came in 2013 at the Medical Center, with the following complaints: decreased in both eyes (OU) of the visual acuity (VA), detected in a prophylactic control.

Results: Presentation, clinical features and progression of Stargardt disease varies greatly from patient to patient. From complaints, appears a difficulty in recognizing faces, reading, writing, distinguishing colors and other work that is done nearby, so that the affected person can see objects only from the "corner of his eye" (peripheral vision or sight "side"). Children can be misdiagnosed for a psychological loss of vision, because macula initially appears normal. Over time, characteristic changes occur in the retina that help facilitate the diagnosis.

Conclusion: Being present in a marked phenotypic variability, the impact of this disease on visual function is highly variable. It is known that VA declines most often to a level of 20/200 or worse, but usually stabilizes after reaching this level. Although some patients maintain a good VA over several years, others may experience a precipitated loss of VA. A comprehensive and interdisciplinary approach for the vision rehabilitation, can help most patients learn to use the remaining visual capacity to a maximum.