Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.

ABSTRACT:

Objective

To characterize the phenotype in individuals with OPA3-related autosomal dominant optic atrophy and cataract (ADOAC) and peripheral neuropathy (PN).

Methods

Two probands with multiple affected relatives and one sporadic case were referred for evaluation of a PN. Their phenotype was determined by clinical ± neurophysiological assessment. Neuropathologic examination of sural nerve and skeletal muscle, and ultrastructural analysis of mitochondria in fibroblasts were performed in one case. Exome sequencing was performed in the probands.

Results

The main clinical features in one family (n = 7 affected individuals) and one sporadic case were early-onset cataracts (n = 7), symptoms of gastrointestinal dysmotility (n = 8), and possible/confirmed PN (n = 7). I

SUBMITTER: Horga A 

PROVIDER: S-EPMC6501639 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature