“ There is No Cure for Stargardt’s”: The Prognosis and Rehabilitation of a Patient with Genetically Confirmed Abca 4 Mutations

Abstract

Background: Stargardt’s macular dystrophy is an autosomal recessive inherited retinal dystrophy associated with mutation in the ABCA4 gene. Although there are no current FDA approved treatments or cures for patients with Stargardt’s macular dystrophy, current research avenues include nutritional supplementation, drug therapies, and gene therapy. Case Report: A 58 year old African American female presents with suspected Stargardt’s with visual reports for comprehensive rehabilitation, including magnification assessment and genetic counseling of a patient with Stargardt’s macular dystrophy. Conclusion: Genetic testing provides insight to the phenotype and magnification determination provides significant rehabilitation to these individuals.