gms | German Medical Science

Objective: Autosomal recessive Stargardt disease (STGD1) clinically embraces a large spectrum of inherited photoreceptor degenerations of the posterior pole. We describe a clinical subtype of STGD1 with exceedingly bad visual prognosis.

Materials and Methods: A large database on patients diagnosed with clinically and genetically proven STGD1 was reviewed. Patients with disease onset before the age of 10 years were selected. The clinical course as well as imaging appearance and electrophysiological properties of these patients were analyzed.

Results: 46 out of 248 patients in our database had early onset Stargardt disease. Frequently, typical flecks were not seen in the first year but developed later in the due course. Instead, a peculiar intraretinal autofluorescence signal with increased OCT reflectivity were visible on imaging. Eventually, extensive retinal atrophy occurred covering the whole posterior pole occurred in adolescence or early adulthood.

Discussion: Early onset STGD1 shows enhanced clinical progression. Due to their young age, these patients may take a large benefit from artificial vision. Due to the rapid progression, gene therapeutic effects may be measured relatively easy.