Exome sequencing analysis identifies possible causal variants in a Brazilian family with Stargardt disease. Homo sapiens

Stargardt disease (STGD) is a hereditary eye disease with juvenile macular dystrophy, associated with alteration in the retinal pigment epithelium of the macula. To identify possible causal mutations in a Brazilian family with four sisters affected with STGD type 1, we performed whole exome sequencing (WES) on those two more severely affected. We successfully verified all candidate variants identified by WES using Sanger sequencing in the affected sisters. Further investigation of the family history revealed a first-degree cousin of their mother with late onset of STGD1. Once there is no medication for STGD, we expect that the recognition of pathogenic variants will indicate new targets for possible gene therapy in the future.