Patient management – genetic testing and practical considerations

Summary Mitochondrial diseases frequently manifest with ocular signs involving the optic nerves, extraocular muscles and retina; therefore, the ophthalmologist is, in many cases, the first specialist consulted. During the last decade, it has been shown that even disorders originally thought to be an isolated ocular entity may display a broad spectrum of overlapping phenotypes affecting multiple organs. This makes genetic counselling challenging. Ophthalmic examination using state of the art imaging, such as optical coherence tomography and autofluorescence, may identify subclinical disease, therefore ophthalmologists can play an important role in guiding further investigation and molecular testing. It is becoming apparent that clinical classification should be associated with the underlying genetic defect to improve our understanding of genotype‐phenotype correlation for these conditions. Supported by AZV 16‐32341A.