Combination of hereditary optic neuropathy and demyelinating disease of the central nervous system

Relevance The combination of hereditary optic neuropathy (HON) and demyelinating diseases of the central nervous system is a complex diagnostic task [1–3]. The use of modern diagnostic methods is important for the correct choice of therapy [4, 5]. Aim To present a clinical case of combined pathology: autosomal recessive optic neuropathy (ARON) and demyelinating disease of the central nervous system in a female patient. Material and methods Patient B., born in 1999, with a disease associated with MOG-IgG antibodies (MOGAZ) and bilateral optic neuropathy (ON) with decreased vision at the age of 22. Results The onset, clinical course of ON, as well as morphofunctional changes indicated a possible genetic nature of ON. Genetic analysis revealed mutations in the DNAJC30 gene of nDNA, which corresponds to ARON. During idebenone therapy, the patient showed partial improvement in visual function during 3 years of observation. Conclusion This case demonstrates the possibility of combining ARON and MOGAS. Differential diagnosis of optic neuritis, characteristic of demyelinating disease, and HON is important for the appointment of the correct therapy. Key words: autosomal recessive optic neuropathy; demyelinating diseases