[PMID: 14635104] Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C. [molvis.org]

Ann Neurol. 2008; 63 :667–71. [ PubMed : 18360822 ] Cryns K, Sivakumaran TA, Van den Ouweland JM, Pennings RJ, Cremers CW, Flothmann K, Young TL, Smith RJ, Lesperance MM, Van Camp G. [ncbi.nlm.nih.gov]

Smith RHJ, Shearer AE, Hildebrand MS, Van Camp G. Deafness and hereditary hearing loss overview. GeneReviews [Internet]. RA Pagon, MP Adam, HH Ardinger, et al., eds. Seattle, WA: University of Washington, Seattle; updated January 9, 2014. [aetna.com]

Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). [ncbi.nlm.nih.gov]

All affected males have evidence of damage to the optic nerve and some have other neurologic signs such as tremor, slurred speech, and unsteadiness but these are usually mild symptoms. Mental retardation has been noted in a few patients. [disorders.eyes.arizona.edu]