PMID: 11910556Mar 23, 2002Paper

Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family

Ophthalmic Genetics
Serap OzdenHüseyin Bağci

Abstract

To describe the clinical features, mode of inheritance, and linkage analysis of ten affected members of a three-generation family with progressive optic atrophy and progressive hearing loss. The proband, a 10-year-old boy, presented with progressive visual failure. Ten other members in his family, including his mother, half-sister, aunt, two uncles, grandfather, and some of the cousins, also had progressive visual loss and hearing loss. Six affected and four unaffected cases were examined in detail. Blood samples were drawn from 16 members for DNA extraction. Two loci previously described for optic atrophy were tested for linkage in the present family. The mode of inheritance was clearly autosomal dominant. Six members of the family were found to have progressive optic atrophy and hearing loss, both starting in the first decade of life. Total or red-green color blindness was detected in some patients. None of the members of this family showed evidence of other systemic disorders; however, four had blepharochalasis. No other cause could be found for the hearing or the visual loss. Linkage analysis excluded OPA1 and OPA2. The present Turkish family belongs to the group of individuals with autosomal dominantly inherited optic atro...Continue Reading

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Citations

May 5, 2007·Bioscience Reports·Valerio CarelliMaria Lucia Valentino
Oct 22, 2005·Annals of Neurology·Patrizia Amati-BonneauPascal Reynier
Jun 14, 2005·Acta Ophthalmologica Scandinavica·Anu PuomilaEeva Nikoskelainen
Sep 15, 2005·American Journal of Medical Genetics. Part a·Chunmei LiElias I Traboulsi
Feb 10, 2004·Progress in Retinal and Eye Research·Valerio CarelliAlfredo A Sadun

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