Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.

ABSTRACT:

Purpose

This study aimed to describe the genetic and clinical characteristics of four Japanese patients with autosomal dominant optic atrophy (DOA) accompanied by auditory neuropathy and other systemic complications (i.e., DOA-plus disease).

Methods

Four patients from four independent families underwent comprehensive ophthalmic and auditory examinations and were diagnosed with DOA-plus disease. The disease-causing gene variants in the OPA1 gene were identified by direct sequencing. The genetic and clinical data of 48 DOA patients without systemic complications-that is, with simple DOA-were compared to those of DOA-plus patients.

Results

DOA-plus patients noticed a decrease in vision before the age of 14 and hearing impairment 3 to 13 years after the development

SUBMITTER: Maeda-Katahira A 

PROVIDER: S-EPMC6798706 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature