Article
Siblings with optic neuropathy and RTN4IP1 mutation.
Journal of human genetics - 1 Oct 2017
Okamoto Nobuhiko, Miya Fuyuki, Hatsukawa Yoshikazu, Suzuki Yasuhiro, Kawato Kazumi, Yamamoto Yuto, Tsunoda Tatsuhiko, Kato Mitsuhiro, Saitoh Shinji, Yamasaki Mami, Kanemura Yonehiro, Kosaki Kenjiro
Abstract excerpt
Inherited optic neuropathies (IONs) are neurodegenerative disorders affecting the optic nerve and the nervous system. Dominant and recessive IONs are known. Many of the dominant IONs are caused by mutations of OPA1. Autosomal-recessive IONs are rare. OPA10 is an autosomal-recessive ION due to mutations in RTN4IP1. Patients with RTN4IP1 mutations show extraocular manifestations. We report brothers with optic...
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