STARGARDT DISEASE

Course overview

STARGARDT DISEASE (STGD1) IS THE MOST COMMON CAUSE OF JUVENILE MACULAR DYSTROPHY. IT IS CAUSED BY MUTATIONS IN THE ADENOSINE TRIPHOSPHATE BINDING CASSETTE TRANSPORTER 4 (ABCR 4) GENE AND IS INHERITED IN AN AUTOSOMAL RECESSIVE PATTERN. IT IS A HETEROGENEOUS DISEASE WITH A MYRIAD OF CLINICAL PRESENTATIONS, WHICH VASTLY VARY IN THE AGE OF ONSET AND THE DISEASE PROGRESSION RATES. PATIENTS CAN BE EASILY MISDIAGNOSED AND SUBSEQUENTLY SUBJECTED TO MULTIPLE INVESTIGATIONS LIKE NEUROIMAGING, LUMBAR PUNCTURES, AND THERAPIES LIKE OCCLUSION. MULTIMODAL IMAGING IS REQUIRED TO ESTABLISH AN EARLY DIAGNOSIS. SEVERAL THERAPEUTIC OPTIONS ARE CURRENTLY BEING EVALUATED. HOWEVER, NONE OF THEM HAVE YET RECEIVED APPROVAL FROM THE UNITED STATES FOOD AND DRUG ADMINISTRATION (US-FDA). THIS CME ACTIVITY REVIEWS THE PATHOPHYSIOLOGY, PRESENTING CLINICAL FEATURES, VARIOUS IMAGING MODALITIES, DIFFERENTIAL DIAGNOSIS, AND THE VARIOUS TREATMENT MODALITIES OF THE DISEASE.