Hereditary eye diseases can feature extraocular neurological complications, although such additional phenotypes can go undetected when a patient's visual defect is dramatic. A consortium has found that extraocular neurological phenotypes are common in patients with OPA1 mutation-related autosomal dominant optic atrophy, occurring in one-fifth of all such individuals.
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Mackey, D., Trounce, I. Optic nerve genetics—more than meets the eye. Nat Rev Neurol 6, 357–358 (2010). https://doi.org/10.1038/nrneurol.2010.77
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DOI: https://doi.org/10.1038/nrneurol.2010.77
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