Demyelinating or hereditary optic neuropathy? Comparison of selected disease entities

The paper discusses retrobulbar optic neuritis secondary to multiple sclerosis, Leber’s hereditary optic neuropathy, and Leber’s hereditary optic neuropathy with multiple sclerosis-like disease – Harding’s syndrome. Retrobulbar optic neuritis secondary to multiple sclerosis is the most common disease (neuropathy) of the optic nerve in young adults and often the first clinical manifestation of multiple sclerosis. Despite a characteristic triad of symptoms and evident focal demyelination in brain magnetic resonance, misdiagnoses still occur. Leber’s hereditary optic neuropathy (atrophy) is a genetic mitochondrial disease, which manifests as a subacute painless loss of vision, and thus can be mistaken for retrobulbar optic neuritis. The coexistence of hereditary optic neuropathy and Harding’s syndrome is another diagnostic difficulty. All these three conditions, the peak of incidence of which occurs in the second to third decade of life, initially manifest only with visual symptoms due to uni- or bilateral optic neuropathy. Magnetic resonance imaging of the brain may show demyelination, while optical coherence tomography of the fundus may detect thinning of the retinal nerve fibre layers in all these neuropathies. We present clinical differences, as well as variances in retinal optical coherence tomography and magnetic resonance imaging between retrobulbar optic neuritis secondary to multiple sclerosis, Leber’s hereditary optic neuropathy, and Leber’s hereditary optic neuropathy with multiple sclerosis-like disease.

Bilateral Retrobulbar Optic Neuritis as the First Manifestation of Neuro-Behçet Disease

Background. Behçet disease (BD) is a polygenic and chronic autoinflammatory multisystem vasculitis. Acute optic neuritis has been rarely reported in patients with BD, especially in children. Case Presentation. We reported an 8-year-old girl with a sudden visual loss and color vision impairment. The patient had a history of recurrent oral aphthous ulcers, genital ulcers, and chronic abdominal pain. On ophthalmic examination, anterior and posterior chambers and funduscopy of both eyes were normal. The results of laboratory tests for infectious and rheumatic diseases were normal. Brain magnetic resonance imaging and the result of cerebrospinal fluid analysis for oligoclonal bands and auto-antibodies were also normal. Pathergy skin test and human leukocyte antigens (HLA) B5 and HLA-B51 were positive. The patient was recognized as a case of BD-related bilateral retrobulbar optic neuritis and was treated by corticosteroids, azathioprine, colchicine, and infliximab. Conclusion. Retrobulbar optic neuritis may be the first manifestation of neuro-BD.