Diagnosis of LHON typically involves a combination of clinical examination and genetic testing. Histological examination of retinal tissue, although not commonly performed due to its invasive nature, can reveal the characteristic loss of retinal ganglion cells and thinning of the nerve fiber layer. Optical coherence tomography (OCT) and fundus photography are non-invasive imaging techniques that are often used to assess the structural changes in the optic nerve and retina.
