title: Optic atrophy, hearing loss, and peripheral neuropathy.
abstract: Here we report on two families with a previously apparently undescribed, autosomal dominant disorder resulting in optic atrophy and subsequent development of hearing loss and peripheral neuropathy. This disorder differs from previous syndromes resulting in this triad of effects both in the severity and early onset of the optic atrophy and in its mode of transmission. Review of published cases of optic atrophy + hearing loss + peripheral neuropathy suggests that there are at least three such specific disorders; classification of these published cases by first-appearing symptom also results in a clean division by most-likely inheritance.
authors.affiliation: Department of Medical Genetics, University of Wisconsin-Madison.
authors.forename: K
authors.initials: K
authors.lastname: Hagemoser
authors.forename: J
authors.initials: J
authors.lastname: Weinstein
authors.forename: G
authors.initials: G
authors.lastname: Bresnick
authors.forename: R
authors.initials: R
authors.lastname: Nellis
authors.forename: S
authors.initials: S
authors.lastname: Kirkpatrick
authors.forename: R M
authors.initials: RM
authors.lastname: Pauli
mesh_terms: D000328:Adult; D034381:Hearing Loss / Q000235:genetics*; D006312:Hearing Loss, Bilateral / Q000235:genetics*; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome