Título

COEXISTENCE OF LEBER'S HEREDITARY OPTIC NEUROPATHY ASSOCIATED WITH MULTIPLE SCLEROSIS: A SYSTEMATIC REVIEW

Objetivo

The present study aims to analyze the prevalence, pathophysiology and prognosis of Hardin's Disease or Harding's Syndrome, which is the association between Leber's hereditary optic neuropathy (LHON) and multiple sclerosis (MS).

Método

This review used the PubMed, Embase and Cochrane databases. We found 34 articles in the last 10 years, of which 12 were selected related to the objective presented. As a search strategy, the following descriptors “Leber's Hereditary Optic Neuropathy”, “Harding's Disease” and “Multiple Sclerosis” were selected.

Resultado

It is a rare condition, the coexistence of LHON-MS occurs mainly due to the similarity in its pathophysiology, arising from a disorder that causes a mutation in mitochondrial DNA, having this mutation, directs a coincident inflammatory response to affect the vulnerable visual pathway in individuals already susceptible to developing MS, causing aggressive irreversible blindness in young adults. A 4:1 male preponderance of LHON is observed, however, patients with LHON-MS are more likely to be female, and a similarity in the symptoms presented by the patients is also observed. The visual prognosis is poor with most patients developing the disease when they are young adults, remaining blind for the rest of their lives with a substantial impact on their quality of life.

Conclusão

Making the diagnosis of LHON-MS is important in women who can pass the mutation on to their offspring benefiting from early genetic counseling. Fundus examination, MRI, genetic testing, and cerebrospinal fluid testing are important in diagnosing LHON-MS. The presence of this LHON-MS patient indicates a high probability of severe visual impairment and therefore early disease-modifying therapy is preferable for prevention. No treatment has proven to be consistently effective for visual improvement in patients with LHON-MS, the evidence is limited and suggests that idebenone may be beneficial, but further studies are needed.