Barbet et al. (2005) described 2 unrelated 3-generation French families with autosomal dominant optic atrophy. Although the age of onset was in the first decade in one family and in the third decade in the other, the phenotype ... Barbet et al. (2005) described 2 unrelated 3-generation French families with autosomal dominant optic atrophy. Although the age of onset was in the first decade in one family and in the third decade in the other, the phenotype was similar in both families and resembled that of patients with mutations in the OPA1 gene. All of the examined patients had optic nerve pallor. Visual acuity decreased slowly, perhaps related to a central scotoma. Color vision was moderately impaired, varying from normal to blue-yellow dyschromatopsia; after several years of evolution, patients showed a severe dyschromatopsia without axis. Electroretinogram recordings were normal, but visual evoked potential recordings were moderately altered in the early stages and severely impaired in the later stages.
In 2 unrelated 3-generation French families with autosomal dominant OPA mapping to chromosome 22q, Barbet et al. (2005) screened 3 candidate genes, OSBP2 (606729), HSC20 (608142), and HSPC051, but found no disease-causing alterations.