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  1. Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies

    Autosomal-recessive optic neuropathies are rare blinding conditions related to retinal ganglion cell (RGC) and optic-nerve degeneration, for which only mutations in TMEM126A and ACO2 are known. In four families with early-onset recessive optic

    http://iris.ucl.ac.uk/iris/publication/1840323/7

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