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Article

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

Molecular vision - 1 Jan 2019

Maeda-Katahira Akiko, Nakamura Natsuko, Hayashi Takaaki, Katagiri Satoshi, Shimizu Satoko, Ohde Hisao, Matsunaga Tatsuo, Kaga Kimitaka, Nakano Tadashi, Kameya Shuhei, Matsuura Tomokazu, Fujinami Kaoru, Iwata Takeshi, Tsunoda Kazushige

Abstract excerpt

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...

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Identifiers

PMID: 31673222
PMCID: PMC6798706

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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