Clinical variability in hereditary optic neuropathies: Two novel mutations in two patients with dominant optic atrophy and Wolfram syndrome |
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Authors: | Alberto Galvez-Ruiz |
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Affiliation: | Neuro-ophthalmology Unit, King Khaled Eye Specialist Hospital, P.O. Box 7191. Riyadh 11462, Saudi Arabia;Neuro-ophthalmology Unit, Ruber International Hospital, Madrid, Spain |
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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. |
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Keywords: | Hereditary optic neuropathies Dominant optic atrophy Wolfram syndrome Diabetes mellitus Deafness |
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