Figure 1

Ophthalmological description of a DOA patient. Results from ophthalmological examination of a paradigm Dominant Optic Atrophy patient with the c.2708delTTAG mutation in OPA1 (Right) compared to a control patient (Left). (A): Eye fundus examination showing the pallor of the optic nerve in the DOA patient, in particular on the temporal side, whereas the rest of the retina appears totally unaffected. (B): Optical Coherence Tomography measures of the retinal nerve fiber layer thickness (black line), at the emergence of the optic disc. In a DOA patient, there is a general reduction in all quadrants, prevailing on the temporal side, compared to a control patient. (C): Visual field examination disclosing the caeco-central scotoma in the DOA patient, whereas only the blind spot is detected in control patient. (D): Results from a desaturated 15-Hue test presenting the characteristic tritanopia (blue-yellow axis) dyschromatopsia defect in the DOA patient.