Stargardt’s disease

phenotype-genotype correlation of a case with late onset and rapid progression

Abstract

The authors report a case of a female patient with a former diagnosis of bilateral macular retinal dystrophy. After consultation in the Ocular Genetics Clinic of The Reference Center of Ophthalmology of the Clinics Hospital (Cerof-HC) of the Federal University of Goias (UFG), she was clinically diagnosed with a specific type of macular retinal dystrophy named Stargardt’s Disease. Afterwards, this diagnostic hypothesis was genotypically confirmed. This case calls the attention because it shows a patient starting loss of central visual acuity only with 33 years old, characterizing a late onset for this dystrophy, which usually generates complaints in the first decade of life. Additionally, she presents a rapid progression, in opposition with what would be expected for a late onset Stargardt’s disease. Based on the detected mutations, it’s postulated a justification for this late onset with rapid progression.