Prognostic DNA testing and counselling for dominant optic atrophy due to a novel OPA1 mutation

Case report: To report the case of a 26-year-old woman with a family history of dominant optic atrophy who requested DNA testing and counselling. Ophthalmologic examination showed her affected father had bilateral temporal papillary pallor. Direct genomic sequencing of the OPA1 gene revealed a novel...

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Veröffentlicht in:	Canadian journal of ophthalmology 2006-10, Vol.41 (5), p.614-616
Hauptverfasser:	Yoshida, Shigeo, Yamaji, Yoko, Yoshida, Ayako, Kuwahara, Rumi, Fujisawa, Kimihiko, Ishibashi, Tatsuro
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult autosomal dominant optic atrophy Codon, Nonsense DNA Mutational Analysis Female Genes, Dominant Genetic Counseling genetic counselling GTP Phosphohydrolases - genetics Humans Male Middle Aged Optic Atrophy, Autosomal Dominant - genetics optic disc Pedigree predictive DNA testing Prognosis
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