Retinal involvement in mitochondrial diseases

Purpose To describe the retinal phenotypes of mitochondrial conditions. Methods A case presentation format will be used to illustrate different retinal conditions due to mitochondrial mutations. Both clinical and electrophysiological phenotypes as well as genotypes will be discussed. Results Phenotypes and genotypes of mitochondrial diseases leading to retinal involvement are very different. The degree of retinal involvement is very variable, both between families and within the same family. Conclusions Retinal involvement of mitochondrial disease is very diverse. Specialised imaging, psychophysics and visual electrophysiology are important tools to estimate severity of involvement.