Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.

ABSTRACT:

Background

Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been described manifesting complex neurodegenerative disorders in addition to optic atrophy.

Results

We report here three patients: one boy showing an early-onset mitochondrial disorder with hypotonia, ataxia and neuropathy that was severely progressive, leading to early death because of multiorgan failure; two unrelated sporadic girls manifesting a spastic ataxic syndrome associated with peripheral neuropathy and, only in one, optic atrophy. Using a targeted resequencing of 132 genes associated with mitochondrial disorders, in two probands we found compound heter

SUBMITTER: Nasca A 

PROVIDER: S-EPMC5427524 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature