Abstract General Information


Leber's Optic Neuropathy and Differential Diagnosis of Atypical Optic Neuritis

Case Report

Case presentation: Patient G.A.M.M., male, 60 years old, hypertensive, social alcoholic, cannabis user, history of prolonged contact with a wood stove, and family history of optic neuritis of undefined etiology, noticed in November 2020 a worsening of visual acuity. In February 2021, he presented bilateral worsening of visual acuity, with subacute evolution end functional blindness. Evaluated by ophthalmology, identified peripheral scotoma. He denied pain on eye movement, headache, motor or sensory deficit or other associated neurological alterations. Neurology requested resonance, identified optic chiasm and optic nerves uptake. The diagnostic hypothesis of optic neuritis was suggested and pulse therapy with methylprednisolone, 1 gram, was performed for 5 days, followed by 7 sessions of plasmapheresis, without improvement. The patient maintained a slow and progressive worsening of visual acuity, for months. inflammatory and infectious markers was negative. Search for oligoclonal bands in CSF and anti-aquaporin 4 antibody (CBA method) were negative. After extensive investigation, the patient was diagnosed with Leber's optic neuropathy, through the identification of the m.11778G>A mitochondrial mutation in MT-ND4. Discussion: Leber's optic neuropathy is a hereditary neuropathy secondary to mitochondrial DNA mutation, characterized by a subacute, bilateral and painless worsening of visual acuity. It may or may not be associated with family history, it is more common in males, with a peak incidence between the second and third decade of life, but with rare cases occurring up to the eighth decade. Optic neuritis is the most common inflammatory manifestation of the central nervous system (CNS). It can be typical or atypical, and its presentation is more similar to Leber's optic neuropathy. Final comments: Inflammatory optic neuritis is more prevalent than Leber's optic neuropathy, and it is necessary to make a differential diagnosis when faced with a suspicion and establish specific treatment


Clinical findings


Karoline Miari Scalioni Cohen, Albert Louis Rocha Bicalho