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Reply: Sensorineural hearing loss in OPA1-linked disorders

Authors
Journal
Brain
0006-8950
Publisher
Oxford University Press
Publication Date
Volume
136
Issue
7
Identifiers
DOI: 10.1093/brain/aws341
Keywords
  • Letters To The Editor
Disciplines
  • Biology
  • Medicine

Abstract

OP-BRAI120258 1..2 BRAIN A JOURNAL OF NEUROLOGY LETTER TO THE EDITOR Reply: Sensorineural hearing loss in OPA1-linked disorders Patrick Yu-Wai-Man1,2 and Patrick F. Chinnery1,3 1 Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK 2 Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK 3 Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 4LP, UK Correspondence to: Dr Patrick Yu-Wai-Man, Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom E-mail: [email protected] Sir, Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy seen in clinical practice, and in 460% of cases, the underlying genetic defect is a pathogenic mutation within the OPA1 gene (Ferre et al., 2009; Yu-Wai-Man et al., 2010a). The pathological hallmark of this disorder is the preferential loss of retinal ganglion cells and patients typically pre- sent with bilateral symmetrical visual loss, which progresses in- sidiously from early childhood onwards (Fraser et al., 2010; Yu-Wai-Man et al., 2011b). Although optic atrophy remains the defining feature of DOA, recent reports published in Brain have highlighted the much broader phenotypic manifestations that can result from pathogenic OPA1 mutations (Amati-Bonneau et al., 2008; Hudson et al., 2008). In a multi-centre study of 104 pa- tients from 45 independent OPA1-positive families, we found that up to 20% of mutation carriers developed significant neurological deficits in addition to visual failure (Yu-Wai-Man et al., 2010b). A striking observation in this clinical subgroup was the high preva- lence of sensorineural deafness, which affected nearly two-thirds of all patients with DOA phenotypes. In their Letter to the Editor, Leruez et al. (2012) have

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