Manifestaciones clinicas e identificacion molecular de pacientes con neuropatia optica hereditaria de Leber en un centro de referencia nacional para la neuroftalmologia en Cuba

Translated title of the contribution: Clinical features and molecular identification in patients with Leber's hereditary optic neuropathy in a national reference centre for neuro- ophthalmology in Cuba

R. Santiesteban-Freixas, M. Rodríguez-Hernández, C. E. Mendoza-Santiesteban, M. Carrero-Salgado, M. Francisco-Plasencia, I. Méndez-Larramendi, S. Vidal-Casalís, R. Rivero-Reyes, M. Hirano

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

Introduction. Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder, confirmed at a molecular level 10 years ago. This had permitted better understanding of the condition. Since 1998, the Instituto de Neurologia y Neurocirugia has used these techniques for the study of mutations which are considered to be the origin of the disorder. Patients and methods. We describe the characteristics of 14 cases from 10 families with LHON and the molecular confirmation found between 1994 and 1998 in the Instituto de Neurologia y Neurocirugia de Cuba. We also review the few cases seen in the previous 18 years. These were from only two families. They were diagnosed on clinical grounds and in view of maternal inheritance. Results and conclusions. In 80% of the families in which the presence of primary mutations was investigated there was A 117789, and in 20% A3460G. The average age of appearance was 28 years. The ages of onset were within the limits of 11 years and 48 years. There were 43% women. Two cases were considered to be sporadic. The clinical features corresponded to those described in such cases, with severe visual defects, central scotomas, very reduced colour vision and severely altered visual evoked potentials, with normal diffuse light and pattern electroretinograms. An improvement in visual acuity of 0.2 was seen in two cases. Microangiopathy, described as characteristic of the early stages of this disorder was detected in five cases, in at least one eye. The others had different degrees of optic atrophy. Two generations of one complete family, all with mutation 3460, were studied. In several families with this mutation alterations were found in the colour vision test of Farnsworth Munsell Hue 100 and also microangiospathy of the retina.

Translated title of the contributionClinical features and molecular identification in patients with Leber's hereditary optic neuropathy in a national reference centre for neuro- ophthalmology in Cuba
Original languageSpanish
Pages (from-to)408-415
Number of pages8
JournalRevista de neurologia
Volume29
Issue number5
DOIs
StatePublished - Sep 1 1999
Externally publishedYes

Keywords

  • Cuba
  • Epidemics
  • Leber's hereditary optic neuropathy
  • Mitochondrial DNA mutation
  • Optic neuropathy

ASJC Scopus subject areas

  • Clinical Neurology

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