![]() ![]() Goldmann perimetry was performed to evaluate visual field size. For all family members except patient II:2, the ophthalmological examinations included best corrected visual acuity measurements, slit-lamp microscopy and ophthalmoscopy. Abbreviations: c.2508G>C WFS1 mutation (C) wildtype allele (wt).Īll family members were examined in our outpatient clinic and medical history was taken. The affected woman and her two sons suffer optic neuropathy and hearing impairment and carry the c.2508G>C WFS1 mutation. ![]() In the pedigree the individual number, the age of the individual, and the WFS1 genotypes are depicted. The p.Lys836Asn mutation in the studied family with autosomal dominant optic neuropathy and hearing impairment. The present report describes the phenotype of a third family with autosomal dominant optic neuropathy and deafness that is associated with a novel missense mutation in WFS1. At the age of 60 the mother was diagnosed with optic atrophy. There were only two affected individuals: the proband and his mother suffered diabetes mellitus with congenital hearing loss. Valéro described a French family with the same missense mutation. concluded that the patients also had impaired glucose tolerance. After examination of the family with autosomal dominant optic neuropathy and deafness, Eiberg et al. Mutations in this gene are reported to be responsible for Wolfram Syndrome, Deafness Autosomal dominant type 6/14 (DFNA6/14 OMIM 600965, a low-frequency sensorineural hearing loss that is inherited in an autosomal dominant manner), psychiatric disorders, and diabetes mellitus (OMIM 606201). WFS1, on chromosome 4p16.3, contains eight exons. described a Danish family who had autosomal dominant optic neuropathy and deafness caused by a mutation in the Wolframin (WFS1) gene. The combination of autosomal dominant optic neuropathy and deafness has been reported in families and in isolated cases with a heterozygous missense mutation in Optic atrophy-1 gene (OPA1 OMIM 605290). ![]() HON is seen in isolated autosomal dominant optic neuropathy, in Leber hereditary optic neuropathy (LHON OMIM 535000), in Wolfram Syndrome (OMIM 222300), and in diseases with primarily neurologic or systemic manifestations such as hereditary ataxias, hereditary polyneuropathies, hereditary spastic paraplegias, hereditary muscular dystrophies, and storage diseases. In later stages, visual loss becomes severe, usually worse than 20/200. Hereditary optic neuropathy (HON) is a disease entity characterized by symmetric, bilateral, central visual loss with deviations of the papillomacular nerve fiber bundle resulting in cupping of the disk and in central or cecocentral scotomas and generalized constriction of the visual fields. ![]()
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