Researchers at the Moorsfield Eye Hospital in London have determined that fundus autofluorescence (FAF) is a robust structural outcome measure in children with Stargardt disease and that the rate of progression was higher for those with the childhood-onset subtype compared to adulthood-onset. Also, the higher rates of progression were maintained into adulthood.
The prospective cohort study assessed children and adults with molecularly confirmed Stargardt disease who underwent longitudinal FAF imaging, followed by subsequent semi-automated measurement of the area of decreased autofluorescence (DAF). Patients were grouped based on the age at baseline and age of onset, into children (n=56), adults with childhood-onset disease (n=15) and adults with adulthood-onset disease (n=19).
The mean age of onset was 9.6±3.4 years for the combined childhood-onset participants and 28.3±7.8 years for adulthood-onset participants. The mean rate of progression was 0.69 mm2/year, 0.78mm2/year and 0.40mm2/year for children, adults with childhood-onset and adults with adulthood-onset disease, respectively. The rate of progression was higher for childhood-onset disease compared with adulthood-onset and was faster for adults with childhood-onset disease compared with those with a diagnosis in childhood. The researchers also noted that patients belonging to a group 3 electroretinography (ERG) phenotype (generalized cone and rod dysfunction) had a significantly greater progression rate.
The study concluded that genetic background, ERG group and intrafamilial presentation are helpful when counselling patients about their prognosis. The researchers also suggest that the childhood-onset subtype of Stargardt disease is ideally suited for consideration and prioritization in clinical trials, given it’s more aggressive progression pattern.
|Georgious M, Kane T, Tanna P, et al. Prospective cohort study of childhood-onset Stargardt Disease: fundus autofuorescence imaging, progression, comparison with adulthood-onset disease and disease symmetry. Am J Ophthalmol. December 6, 2019. [Epub ahead of print].|