Stargardt's pigmentosa: A novel combination of two inherited retinal dystrophies

Abstract

60-year-old woman referring visual disability. She presented bone spicule pigmentation and retinal atrophy in all peripheral retina, as well as macular retinal flecks. Multimodal imaging showed typical findings of both inherited retinal dystrophies (IRD). Electroretinogram confirmed rod dysfunction. Biallelic mutations were found in ABCA4 and CNGA1 genes. Although not common, different IRDs may be present in a same patient at the same time. This is the first reported case of the combination of RP with late-onset Stargardt's disease. We propose the name 'Stargardt's pigmentosa' for this novel clinical entity.

Keywords: Distrofia hereditaria de la retina; Enfermedad de Stargardt; Genetic mutation; Inherited retinal dystrophy; Multimodal imaging; Multimodalidad de imagen; Mutación genética; Retinitis pigmentosa; Retinosis pigmentaria; Stargardt’s disease.