Mitochondrial Oxidative Phosphorylation Compensation May Preserve Vision in Patients with OPA1-Linked Autosomal Dominant Optic Atrophy

@inproceedings{Bergen2011MitochondrialOP,
  title={Mitochondrial Oxidative Phosphorylation Compensation May Preserve Vision in Patients with OPA1-Linked Autosomal Dominant Optic Atrophy},
  author={Nicole J. Van Bergen and Jonathan Guy Crowston and Lisa S. Kearns and Sandra E Staffieri and Alex W. Hewitt and Amy C. Cohn and David A Mackey and Ian A Trounce},
  booktitle={PloS one},
  year={2011}
}
Autosomal Dominant Optic Atrophy (ADOA) is the most common inherited optic atrophy where vision impairment results from specific loss of retinal ganglion cells of the optic nerve. Around 60% of ADOA cases are linked to mutations in the OPA1 gene. OPA1 is a fission-fusion protein involved in mitochondrial inner membrane remodelling. ADOA presents with marked variation in clinical phenotype and varying degrees of vision loss, even among siblings carrying identical mutations in OPA1. To determine… CONTINUE READING

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