LEBER-FELE HEREDITAER OPTICUSNEUROPATHIA - VIRUSROMALST OKOZO MITOCHONDRIALIS DNA-MUTACIO

Translated title of the contribution: Leber's hereditary optic neuropathy - Visual loss caused by a mitochondrial DNA mutation

R. Horvath, J. Horvath, G. Kiss, V. Karcagi, S. Komoly

Research output: Contribution to journalArticle

Abstract

Introduction - Several human diseases are caused by mitochondrial DNA mutations and the information on them has been markedly increased in the last few years. Many important respiratory chain enzymes are mitochondrially encoded, so the first symptoms usually involve the organs with high respiratory function - for example brain and muscle. In this study clinical and electrophysiological data of genetically diagnosed LHON (Leber's hereditary optic neuropathy) patients are presented in order to evaluate the clinical manifestation of the disease and its statistical features (serrate, age at onset, phenotype manifestation rate). Patients and Methods - Peripheral venous blood of patients with bilateral optic neuropathy was tested for the pathogenic LHON point mutations. The LHON positive family members were examined clinically and electrophysiologically. Results -The clinical symptoms and statistical features (sex rate, disease onset, rate of phenotype manifestation etc) of LHON positive patients in this study were similar to those of other caucasian cohorts. The visual evoked potential test showed that bilateral optic nerve lesion is a combined axonal-demyelinating type. On electromyography mild axonal lesion was found in 37% of the patients. Conclusion - In the differential diagnosis of bilateral optic neuropathies pathogenic LHON mutations play an important role. The exact genetic diagnosis of LHON and other mitochondrial diseases could help to predict the prognosis of the disease and to protect the patients from the damaging side-effects of ineffective therapies.

Original languageHungarian
Pages (from-to)182-188
Number of pages7
JournalLege Artis Medicinae
Volume8
Issue number3
Publication statusPublished - 1998

Fingerprint

Leber's Hereditary Optic Atrophy
Mitochondrial DNA
Mutation
Optic Nerve Diseases
Phenotype
Mitochondrial Diseases
Visual Evoked Potentials
Electromyography
Optic Nerve
Electron Transport
Age of Onset
Point Mutation
Differential Diagnosis
Muscles
Brain
Enzymes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

LEBER-FELE HEREDITAER OPTICUSNEUROPATHIA - VIRUSROMALST OKOZO MITOCHONDRIALIS DNA-MUTACIO. / Horvath, R.; Horvath, J.; Kiss, G.; Karcagi, V.; Komoly, S.

In: Lege Artis Medicinae, Vol. 8, No. 3, 1998, p. 182-188.

Research output: Contribution to journalArticle

@article{519e6ea967d046a8ae3b2b985d72e0ba,
title = "LEBER-FELE HEREDITAER OPTICUSNEUROPATHIA - VIRUSROMALST OKOZO MITOCHONDRIALIS DNA-MUTACIO",
abstract = "Introduction - Several human diseases are caused by mitochondrial DNA mutations and the information on them has been markedly increased in the last few years. Many important respiratory chain enzymes are mitochondrially encoded, so the first symptoms usually involve the organs with high respiratory function - for example brain and muscle. In this study clinical and electrophysiological data of genetically diagnosed LHON (Leber's hereditary optic neuropathy) patients are presented in order to evaluate the clinical manifestation of the disease and its statistical features (serrate, age at onset, phenotype manifestation rate). Patients and Methods - Peripheral venous blood of patients with bilateral optic neuropathy was tested for the pathogenic LHON point mutations. The LHON positive family members were examined clinically and electrophysiologically. Results -The clinical symptoms and statistical features (sex rate, disease onset, rate of phenotype manifestation etc) of LHON positive patients in this study were similar to those of other caucasian cohorts. The visual evoked potential test showed that bilateral optic nerve lesion is a combined axonal-demyelinating type. On electromyography mild axonal lesion was found in 37{\%} of the patients. Conclusion - In the differential diagnosis of bilateral optic neuropathies pathogenic LHON mutations play an important role. The exact genetic diagnosis of LHON and other mitochondrial diseases could help to predict the prognosis of the disease and to protect the patients from the damaging side-effects of ineffective therapies.",
keywords = "Bilateral optic neuropathy, Electrophysiological examinations, Leber's disease, Mitochondrial DNA point mutations",
author = "R. Horvath and J. Horvath and G. Kiss and V. Karcagi and S. Komoly",
year = "1998",
language = "Hungarian",
volume = "8",
pages = "182--188",
journal = "Lege Artis Medicinae",
issn = "0866-4811",
publisher = "Literatura Medica Publishing House",
number = "3",

}

TY - JOUR

T1 - LEBER-FELE HEREDITAER OPTICUSNEUROPATHIA - VIRUSROMALST OKOZO MITOCHONDRIALIS DNA-MUTACIO

AU - Horvath, R.

AU - Horvath, J.

AU - Kiss, G.

AU - Karcagi, V.

AU - Komoly, S.

PY - 1998

Y1 - 1998

N2 - Introduction - Several human diseases are caused by mitochondrial DNA mutations and the information on them has been markedly increased in the last few years. Many important respiratory chain enzymes are mitochondrially encoded, so the first symptoms usually involve the organs with high respiratory function - for example brain and muscle. In this study clinical and electrophysiological data of genetically diagnosed LHON (Leber's hereditary optic neuropathy) patients are presented in order to evaluate the clinical manifestation of the disease and its statistical features (serrate, age at onset, phenotype manifestation rate). Patients and Methods - Peripheral venous blood of patients with bilateral optic neuropathy was tested for the pathogenic LHON point mutations. The LHON positive family members were examined clinically and electrophysiologically. Results -The clinical symptoms and statistical features (sex rate, disease onset, rate of phenotype manifestation etc) of LHON positive patients in this study were similar to those of other caucasian cohorts. The visual evoked potential test showed that bilateral optic nerve lesion is a combined axonal-demyelinating type. On electromyography mild axonal lesion was found in 37% of the patients. Conclusion - In the differential diagnosis of bilateral optic neuropathies pathogenic LHON mutations play an important role. The exact genetic diagnosis of LHON and other mitochondrial diseases could help to predict the prognosis of the disease and to protect the patients from the damaging side-effects of ineffective therapies.

AB - Introduction - Several human diseases are caused by mitochondrial DNA mutations and the information on them has been markedly increased in the last few years. Many important respiratory chain enzymes are mitochondrially encoded, so the first symptoms usually involve the organs with high respiratory function - for example brain and muscle. In this study clinical and electrophysiological data of genetically diagnosed LHON (Leber's hereditary optic neuropathy) patients are presented in order to evaluate the clinical manifestation of the disease and its statistical features (serrate, age at onset, phenotype manifestation rate). Patients and Methods - Peripheral venous blood of patients with bilateral optic neuropathy was tested for the pathogenic LHON point mutations. The LHON positive family members were examined clinically and electrophysiologically. Results -The clinical symptoms and statistical features (sex rate, disease onset, rate of phenotype manifestation etc) of LHON positive patients in this study were similar to those of other caucasian cohorts. The visual evoked potential test showed that bilateral optic nerve lesion is a combined axonal-demyelinating type. On electromyography mild axonal lesion was found in 37% of the patients. Conclusion - In the differential diagnosis of bilateral optic neuropathies pathogenic LHON mutations play an important role. The exact genetic diagnosis of LHON and other mitochondrial diseases could help to predict the prognosis of the disease and to protect the patients from the damaging side-effects of ineffective therapies.

KW - Bilateral optic neuropathy

KW - Electrophysiological examinations

KW - Leber's disease

KW - Mitochondrial DNA point mutations

UR - http://www.scopus.com/inward/record.url?scp=0031976513&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031976513&partnerID=8YFLogxK

M3 - Article

AN - SCOPUS:0031976513

VL - 8

SP - 182

EP - 188

JO - Lege Artis Medicinae

JF - Lege Artis Medicinae

SN - 0866-4811

IS - 3

ER -