Leber´s hereditary optic neuropathy: vision recovery due to spontaneous remission or Idebenone treatment outcome? - a case report / Neuropatia óptica hereditária da Leber: recuperação da visão devido a remissão espontânea ou resultado do tratamento com Idebenone? - um relato de caso

• Autor(a) principal: Almeida, Glauco
• Data de Publicação: 2022
• Outros Autores: Parmigiani, Juliano
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Brazilian Journal of Health Review
• Texto Completo: https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/46615
• topic: optic neuropathy; Leber’s neuropathy; acute visual loss; genetic visual loss; idebenone.

Leber’s Hereditary Optic Neuropathy (LHON) is a neurodegenerative disease that commonly affects young male leading to acute central visual loss – bilaterally in most cases. The patients carry DNA mutations that sometimes can express Leber’s disease symptons. Diagnosis is based on complementary exams but mostly expensive genetic studies. Treatment is still na on going process. The case of the young male patient reported here has the objective to highlight that in most countries, such as Brazil, public policies are needed to enable genetic medical diagnosis and treatment.