Stargardt’s disease

It is the most common hereditary residual macular dystrophy. It bears the name of the German ophthalmologist who first described it in 1909. The disease has a genetic basis due to a mutation in the ABCA4 gene which causes accumulation of by-products of the visual cycle in the retinal pigment epithelium and subsequent malfunction or destruction of the photoreceptors.

The condition may initially be asymptomatic, but patients usually experience a decrease in central vision, photophobia, impaired colour perception and dark adaptation.

Usually, the decrease in vision occurs between adolescence and adulthood. At the first eye examination, visual acuity varies between 0,5/10 and 10/10. Despite progressive deterioration, few patients experience a decrease in vision below the level of 0,5/10. In general, it appears that the older the age of onset of the disease, the better the prognosis.

Most Stargardt’s patients do not know a relative who has the same disease. But when one is discovered then it is usually an autosomal recessive inheritance.

Diagnosis is made by fundoscopy, autofluorescence photography, visual field examination and OCT as well as electroretinography.

Photo of autofluorescence in Stargardt

As regards genetic testing, it is recommended, but not always necessary, to test the ABCA4 gene.

A disease like Stargardt’s is fundus flavimaculatus, which seems to have a more favorable course.

A cure for Stargardt’s disease does not currently exist except at the research level. Scientists are looking towards future gene therapies which will not only stop the progression of the disease but also improve it. Treatment with vitamin A or isotretinoin is contraindicated.