Brain Imaging Finding in Leber’s Hereditary Optic Neuropathy in Comparison to Patients with Optic Neuritis (ON) Manifestation Diseases

Abstract

Purpose : Classification of brain imaging findings in affected subacute/dynamic LHON patients.

Methods : A retrospective chart review of brain imaging of patients with LHON and age and sex-matched control group of patients with ON manifestation diseases was performed. Patients with a genetic diagnosis of LHON who had brain imaging performed around the time of clinical conversion were included in the LHON group. The age and sex-matched ON group had manifestation diseases with an optic neuritis attack before the brain imaging was performed. Subjects were excluded from the control ON if they had central nervous system degenerative diseases other than optic neuritis manifestation diseases.

Results : Previous imaging reports were analyzed for basic interpretation of 24 LHON patients and the following were seen: orbital segment involvement such as enhancement of optic nerves on post contrast, optic nerve thinning, T2 hyperintensity signal, and increased volume of optic nerves were observed in 9/24 patients; 2/24 patients demonstrated canalicular involvement such as mild edema within the canalicular portion of the left optic nerve, and T2 hyperintensities within the intracanalicular segments of both optic nerves; 7/24 patients demonstrated chiasmal involvement such as increased thickness, T2 hyperintensity, displacement, thinning, and enlargement; 4/24 patients demonstrated optic tract involvement such as enhancement on T1 contrast, increased T2 signal, enlargement and thickening; 6/24 patients demonstrated white matter involvement such as tiny subcortical and periventricular white matter foci and a T2 and FLAIR hyperintensity; and no intracranial involvement was seen. Other findings included chiasmal ptosis in an LHON patient who also had a pituitary adenoma. Brain imaging is currently being reviewed by the neuro-radiologist for appropriate sequence identification and further analysis will be completed.

Conclusions : Brain imaging distinctness between LHON and ON manifestation disease patients will help avoid misdiagnosis during the initial clinical presentation improving patient care and avoiding unnecessary treatment.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.