PERIPAPILLARY MITOCHONDRIAL RETINOPATHY SECONDARY TO A NOVEL MITOCHONDRIAL DNA MUTATION

To report a case of pigmentary retinopathy associated with a novel mitochondrial DNA mutation.

Patient and Results: Patient presented with reduced vision. Visual acuity, ophthalmic examination, color photographs, spectral domain optical coherence tomography, autofluorescence, and genetic testing were performed. Pigmentary retinopathy together with perifoveal atrophy characteristic of mitochondrial retinopathy was identified. Genetic testing confirmed a novel mitochondrial mutation.

We report bilateral symmetric retinopathy caused by a novel mitochondrial DNA mutation m.16021_16022delCT MTTP (tRNA pro).