Stargardt disease: Multimodal imaging: A review

Abstract

Stargardt disease (STGD1) is an autosomal recessive retinal dystrophy,characterised by bilateral progressive central vision loss and subretinal deposition of lipofuscin-like substances. Recent advances in molecular diagnosis and therapeutic options are complemented by the increasing recognition of new multimodal imaging biomarkers that may predict genotype and disease progression. Unique non-invasive imaging features of STDG1 are useful for gene variant interpretation and may even provide insight into the underlying molecular pathophysiology. In addition, pathognomonic imaging features of STGD1 have been used to train neural networks to improve time efficiency in lesion segmentation and disease progression measurements. This review will discuss the role of key imaging modalities, correlate imaging signs across varied STGD1 presentations and illustrate the use of multimodal imaging as an outcome measure in determining the efficacy of emerging STGD1 specific therapies.

Stargardt disease and progress in therapeutic strategies

“…A recent study reported a mean expansion rate of 0.69, 0.78 and 0.40 mm 2 per year for children, adults with childhood-onset and adults with late-onset disease (78). Growth rate based on square root transformed area of atrophy has been shown to be independent of baseline area (79). This approach has allowed demonstration of the importance of ERG severity and genotype group on atrophy expansion rates in STGD1 (56,80).…”

Genotype-Specific Lesion Growth Rates in Stargardt Disease

“…The growth rate (GR) of retinal pigment epithelial atrophy, known as definitely decreased autofluorescence (DDAF), is a widely accepted clinical trial endpoint [ 3 ]. Variable DDAF GRs have been attributed to their dependence on baseline lesion size [ 4 ]. Square root area (SRA) transformation, however, eliminates this dependence and allows linear modelling of GR [ 5 ].…”

Bilateral visual loss, behavioral changes, and overlooking in a young child with Stargardt disease: Neurodiagnostic considerations

“… 10 OCT shows intraretinal and subretinal flecks arising from degenerated photoreceptor segments leading to hyper-reflective deposits on the apical surface of the retinal pigment epithelium. 12 , 13 These deposits disrupt the interdigitation and ellipsoid zones adjacent to the external limiting membrane, leading to thinning of the outer nuclear layer. 12 Fluorescein angiography shows absence of choroidal fluorescence (termed a dark or silent choroid ) in the majority of cases.…”