title: Clinical variability in hereditary optic neuropathies: Two novel mutations in two patients with dominant optic atrophy and Wolfram syndrome.
abstract: Dominant optic atrophy (DOA) and Wolfram syndrome share a great deal of clinical variability, including an association with hearing loss and the presence of optic atrophy at similar ages. The objective of this paper was to discuss the phenotypic variability of these syndromes with respect to the presentation of two clinical cases. We present two patients, each with either DOA or Wolfram syndrome, and contribute to the research literature through our findings of two novel mutations. The overlapping of several clinical characteristics in hereditary optic neuropathies can complicate the differential diagnosis. Future studies are needed to better determine the genotype-phenotype correlation for these diseases.
authors.affiliation: Neuro-ophthalmology Unit, King Khaled Eye Specialist Hospital, P.O. Box 7191. Riyadh 11462, Saudi Arabia.
authors.forename: Alberto
authors.initials: A
authors.lastname: Galvez-Ruiz
keywords: Deafness; Diabetes mellitus; Dominant optic atrophy; Hereditary optic neuropathies; Wolfram syndrome