Reply: Sensorineural hearing loss in OPA1-linked disorders

ARTICLESir, Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy seen in clinical practice, and in >60% of cases, the underlying genetic defect is a pathogenic mutation within the OPA1 gene (Ferre et al. , 2009; Yu-Wai-Man et al. , 2010 a ). The pathological hallmark of this disorder is the preferential loss of retinal ganglion cells and patients typically present with bilateral symmetrical visual loss, which progresses insidiously from early childhood onwards (Fraser et al. , 2010; Yu-Wai-Man et al. , 2011 b ). 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 patients 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. , 2010 b ). A striking observation in this clinical subgroup was the high prevalence 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 provided confirmatory information …