Dominant Optic Atrophy: Novel OPA1 Mutations and Revised Prevalence Estimates

Autosomal-dominant optic atrophy (DOA) is the most common inherited optic nerve disorder seen in clinical practice. So far, 2 causative genes have been identified in patients with DOA; OPA1, which accounts for 50%–60% of cases, and OPA3, which is relatively rare having been identified in only isolated families in association with premature cataracts. OPA1 mutations have a high penetrance rate, but the disease phenotype is characterized by marked intra- and interfamilial variability. Patients classically present with increasing visual difficulties in early childhood and there is a high rate of progression (Read more...)

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