Atlas of Ophthalmology

Hereditary (autosomal-recessive) optic atrophy (fundus photo, w-w-Perimetrie, OCT, VEP, DTI)

Brain and Optical Pathway
Assessment: The diagnosis of hereditary (autosomal-recessive) optic atrophy is based on the family history with optic nerve atrophy and the collected findings including the pale temporal papilla in both eyes. The retinal nerve fiber layer (3rd neuron of the visual pathway) is clearly reduced in both eyes. The axonal integrity (FA and MD values) and the intactness of the surrounding glial cells or myelin sheath (RD values) of the 4th neuron are within normal limits. The electrophysiological examination reveals a definitely impaired function of signal transmission along the visual pathway, which may not be measured by the DTI. Accordingly, the visual acuity is reduced severely. However, visual field defects are present in only a small extent. Intracerebral reasons for these findings were not found. In summary, the pathological process affects the 3rd neuron of the visual pathway stronger than the 4th neuron.

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