Closer Examination, Additional Testing, and Patience Lead to LHON Diagnosis

Ganglion cell layer thickness OCT of patient. Notice the bilateral extensive loss of GCL OU, consistent with optic nerve pallor and RNFL thinning in clinical examination.
Ganglion cell layer thickness OCT of patient. Notice the bilateral extensive loss of GCL OU, consistent with optic nerve pallor and RNFL thinning in clinical examination.
Image courtesy: Ensor et.al., Modern Optometry, January/February 2023

This case study of a patient with Leber hereditary optic neuropathy (LHON) showcases the diagnostic value of the SPECTRALIS. OCT imaging revealed temporal thinning of the nerve fiber layer (RNFL) and extensive loss of the ganglion cell layer, in both eyes. This information, together with history collection, vision testing, and genetic confirmation, made diagnosis possible.

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