Article
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant.
Neuropediatrics - 1 Dec 2020
Giacomini Thea, Gamucci Alessandra, Pisciotta Livia, Nesti Claudia, Fiorillo Chiara, Doccini Stefano, Morana Giovanni, Nobili Lino, Santorelli Filippo M, Mancardi Maria Margherita, De Grandis Elisa
Abstract excerpt
RTN4IP1 pathogenic variants (OPA10 syndrome) have been described in patients with early-onset recessive optic neuropathy and recently associated with a broader clinical spectrum, from isolated optic neuropathy to severe encephalopathies with epilepsy. Here we present a case of a patient with a complex clinical picture characterized by bilateral optic nerve atrophy, horizontal nystagmus, myopia, mild intellectual...
Topics
- Brain
- Carrier Proteins
- Child
- Chorea
- Humans
- Male
- Mitochondrial Proteins
- Mutation
- Optic Atrophy