Abstract

COLUMBIE GARBEY, Yannara Elina; SANTIESTEBAN FREIXAS, Rosaralis; HERNANDEZ SILVA, Yaimara  and  HERNANDEZ ECHAVARRIA, Odelaisys. Leber´s hereditary optic neuropathy. Rev Cubana Oftalmol [online]. 2012, vol.25, n.1, pp. 133-144. ISSN 0864-2176.

Leber´s hereditary optic neuropathy is a maternally inherited disease characterized by subacute, painless and bilateral loss of the central vision, although not always at the same time. It predominates in young men and is caused by mitochondrial DNA spot mutations. This is one of the most common hereditary and highly disabling optic neuropathy, the precise diagnosis of which is based on the molecular studies. The purpose of this article was to alert specialists on the possible diagnosis and increase of this impairment under favorable environmental conditions. A computerized search of scientific articles related to the subject was made in Hinari and PUBMED, which resulted in 37 publications during the years 1988 through 2010. Several disease aspects such as historical background, risk factors, epidemiology, genetics, clinical features, diagnosis and treatment were studied and discussed, in addition to delving into current status of the disease in our country. Several Cuban families are presently known to be affected by Leber´s hereditary optic neuropathy. The rise of incidence was probably due to environmental conditions that favor or are risk factors for this entity, as occurred during the last epidemic of optic neuropathy in Cuba. Every day there are more advances in the field of genetics that allows identifying a higher number of mutations associated with this disease. This event together with advanced knowledge of its clinical features has made it possible to identify the affected families and to control the risk factors.

Keywords : Leber´s hereditary optic neuropathy; mitochondrial DNA; visual impairment from optic neuropathy.

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