Stargardt disease is a rare, genetic presentation that affects the macula in children. These patients experience vision loss due to an abnormal accumulation of lipofuscin.1 However, the disease can be extremely heterogeneous and has variable macular and peripheral retinal involvement.1 An Italian research team published a recent investigation attempting to correlate peripheral ultra-widefield (UWF) involvement with macular alterations, as assessed by structural OCT and OCT angiography (OCT-A), to identify different phenotypes of Stargardt disease.2
Using UWF autofluorescence, they found three distinct Stargardt phenotypes, each with variable OCT and OCT-A impairment. The team looked at the cases of 140 male patients: 70 with Stargardt and 70 controls. They performed a complete ophthalmologic assessment and multimodal imaging, including OCT, OCT-A, fundus autofluorescence and UWF imaging.2
They subdivided the patients with Stargardt disease into three types based on peripheral involvement and analyzed their OCT and OCT-A quantitative parameters. Type III made up 17% of the Stargardt group and had significantly worse visual function, OCT and OCT-A imaging parameters than types I and II.2
1. NIH. Stargardt disease. Genetic and Rare Disease Information Center. rarediseases.info.nih.gov/diseases/181/stargardt-disease/. March 7, 2016. Accessed December 3, 2019.
2. Arrigo A, Grazioli A, Romano F, et al. Multimodal evaluation of central and peripheral alterations in Stargardt disease: a pilot study. Br J Ophthalmol. November 20 2019. [Epub ahead of print].