Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy

Publication date: Available online 27 August 2018Source: MitochondrionAuthor(s): Michelle Ham, Julia Han, Kathryn Osann, Moyra Smith, Virginia KimonisAbstractAutosomal Dominant Optic Atrophy (ADOA) is a neuro-ophthalmic disease characterized by progressive bilateral vision loss, pallor of the optic disc, central vision loss, and impairment of color vision. Additionally, a small percentage of patients experience hearing loss and ataxia, while recent studies suggest disruption of cardiac and neuromuscular functions. In order to obtain a better understanding of the genotype-phenotype correlation of the various mutations in the optic atrophy 1 (OPA1) gene, we obtained both clinical and genetic information of ADOA patients from published reports. We conducted a systematic review of published OPA1 literature and identified 408 individuals with confirmed OPA1 mutations, 120 of whom reported extra-ocular (ADOA ‘plus’) manifestations through their descriptions of visual and multi-systemic symptoms. Our results show that there is a significant variation in frequency of the specific exons involved between the ADOA classic and ADOA ‘plus’ patients. Classic ADOA groups were more likely to have mutations in exon 8 and 9, while ADOA ‘plus’ groups were more likely to have mutations in exons 14, 15 and 17. Additional comparisons revealed significant differences between mutation types/domains and specific ADOA ‘plus’ manifestations. We also found that individuals with maternall...

Source: Mitochondrion - August 28, 2018 Category: Biochemistry Source Type: research