• molecular testing in dominant optic atrophy

Juvenile onset dominant optic atrophy (DOA) is the most common inherited optic atrophy with a variable prevalence of between 1 in 10 000 (Denmark) and 1 in 50 000.^1,2 The majority of cases have been shown to have mutations in the OPA1 gene on chromosome 3.^3–5 Reduced visual acuity of insidious onset, temporal pallor of the optic disc, centrocaecal scotoma, and generalised dyschromatopsia are the key clinical features.⁶ Recent studies, however, have shown that penetrance within families is much lower than first realised and the assignment of status using clinical criteria alone can result …