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01-08-2019 | Migraine | Original Article

Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C

Authors: Josef Finsterer, Franco Laccone

Published in: Metabolic Brain Disease | Issue 4/2019

Abstract

OPA1 variants most frequently manifest phenotypically with pure autosomal dominant optic atrophy (ADOA) or with ADOA plus. The most frequent abnormalities in ADOA plus in addition to the optic nerve affection include hypoacusis, migraine, myopathy, and neuropathy. Hypertelorism and atrophy of the acoustic nerve have not been reported. The patient is a 48yo Caucasian female with slowly progressive, visual impairment since childhood, bilateral hypoacusis since age 10y, and classical migraine since age 20y. The family history was positive for diabetes (father, mother) and visual impairment (daughter). Clinical examination revealed hypertelorism, visual impairment, hypoacusis, tinnitus, weakness for elbow flexion and finger straddling, and generally reduced tendon reflexes. MRI of the cerebrum was non-informative but hypoplasia of the acoustic nerve bilaterally was described. Visually-evoked potentials revealed markedly prolonged P100-latencies bilaterally. Acoustically-evoked potentials were distorted with poor reproducibility and prolonged latencies. Muscle biopsy revealed reduced activities of complexes I, II, and IV. Genetic work-up revealed the novel variant c.1463G>C in the OPA1 gene. This case provides novel information regarding the genotype of ADOA plus. The novel OPA1 variant c.1463G>C not only manifests with visual impairment, hypoacusis, migraine, and myopathy, but also with hypertelorisms and acoustic nerve atrophy.

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Title: Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C
Authors: Josef Finsterer
Franco Laccone
Publication date: 01-08-2019
Publisher: Springer US
Keywords: Migraine
Diseases of the neuromuscular synapses and muscles
Evoked Potential
Ophthalmoparesis
Evoked Potential
Myopathy
Published in: Metabolic Brain Disease / Issue 4/2019
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-019-00425-0

At a glance: The STEP trials

Springer Medicine

Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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