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

Mitochondrion
Michelle HamVirginia Kimonis

Abstract

Autosomal 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 spe...Continue Reading

Citations

Jun 4, 2019·Metabolic Brain Disease·Josef Finsterer, Franco Laccone
Jun 24, 2020·Proceedings of the National Academy of Sciences of the United States of America·Ingrid P MeschedeThomas Burgoyne
Oct 6, 2020·Therapeutic Advances in Ophthalmology·Cécile MéjécaseMariya Moosajee
Aug 23, 2019·Current Opinion in Ophthalmology·Eloise WatsonClare L Fraser
Dec 20, 2020·Progress in Retinal and Eye Research·Guy LenaersBernd Wissinger
Jan 28, 2021·Genes·Michael James GilhooleyPatrick Yu Wai Man
Aug 28, 2021·Genes·Roxane Van HeurckAriane Paoloni-Giacobino
Sep 23, 2021·Scientific Reports·Isabelle MeunierGuy Lenaers

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