Stargardt Disease

Excerpt

The term “macular dystrophy” is historically used for a group of heritable disorders that present with retinal abnormalities between the temporal vascular arcades. Stargardt disease type 1 (STGD1) is the most common cause of juvenile macular dystrophy. German ophthalmologist Karl Stargardt first described the condition in 1909 in seven patients of two families who presented with macular dystrophy surrounded by yellow-white pisciform flecks.

Stargardt disease is a genetic disorder that leads to the accumulation of lipofuscin, a metabolic waste product, in the retina. This condition is a heterogeneous disease with many clinical presentations, which vary vastly in the age of onset and the rate of progression. Patients present with progressive visual impairment, usually beginning in the first or second decades of life. The phenotypic heterogeneity makes the clinical diagnosis of STGD1 challenging. Reports from the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) study have described the natural history of the disease with the help of various structural and functional investigative modalities. Several therapeutic options are currently being evaluated. However, none have yet received approval from the United States Food and Drug Administration (US-FDA) as of May 2023.