Neuropatía óptica hereditaria de Leber por mutación G11778A del ADN mitocondrial. Manejo de un caso

Leber's hereditary optic neuropathy is a mitochondrial genetic disease that typically causes bilateral blindness in young adult males. In addition to mitochodrial ADN mutation other genetic and environmental factors are required for disease development. There is currently no effective treatment for Leber's hereditary optic neuropathy but genetic counseling is important in asymptomatic carriers. We report the case of a 23-year-old male patient with acute unilateral central visual loss that becomes bilateral in weeks. Fundus examination (peripapillary vascular tortuosity, telangiectasia and papillary hyperemia), fluorescein angiography (with no sweating) and thickening of the nerve fiber layer make us suspect the disease. Molecular genetic test demonstrate Leber's hereditary optic neuropathy mutation 11778A in homoplasmy. Despite treatment with idebenone and vitamin supplements, the disease progresses to bilateral papillary atrophy. The future appears to be in the gene therapy currently under investigation.