Neurologic Phenotypes Associated With Mutations in <i>RTN4IP1</i> (<i>OPA10</i>) in Children and Young Adults

Abstract

A broad clinical spectrum of neurologic features, ranging from isolated optic atrophy to severe early-onset encephalopathies, is associated with RTN4IP1 biallelic mutations and should prompt RTN4IP1 screening in both syndromic neurologic presentations and nonsyndromic recessive optic neuropathies.