Studies of patients carrying pathogenic OPA1 mutations have revealed the great diversity of clinical presentations of ADOA by the description of congenital forms of the disease [16], of forms with spontaneous visual recovery [17], and forms associated with extraocular symptoms such as deafness [18], polyneuropathy [19], chronic progressive ophthalmoplegia [20], myopathy, and encephalopathy [14,15]. Here, OPA1 is linked to autosomal dominant optic atrophy.