Description
Stargardt’s macular dystrophy is a hereditary disease characterised clinically by bilateral, juvenile onset, progressive visual loss. Clinically, atrophy of the retinal pigment epithelium and choriocapillaris in the macula with surrounding yellow flecks is observed. Most cases of Stargardt’s macular dystrophy are inherited in an autosomal recessive pattern. In this form mutations in a gene, ATP binding casette – retina specific (ABCR), have been identified as causing the disease. Less common, the disease may be inherited in an autosomal dominant pattern. The genetic characterisation of Stargardt’s macular dystrophy may provide a better understanding of age related macular degeneration and other forms of inherited retinal disorders.
