Genotype-Phenotype Correlations in Autosomal Dominant Optic Atrophy

Autosomal dominant optic atrophy (DOA) is the commonest inherited optic neuropathy, yet there is limited natural history data on disease progression. This presents a major challenge with regards to counselling patients on visual prognosis and establishing outcome measures for therapeutic studies. This study sought to establish the natural history of DOA in a large patient cohort with a confirmed molecular diagnosis