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Importance of 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 …